Leiden Muscular Dystrophy pages©

Dystrophin Dp140 isoforms (CNS)

(last modified March 2, 1999)


Submitted to GenBank



LOCUS       Dp140        7410 bp    mRNA            PRI       20-JAN-1998
DEFINITION  Human dystrophin cDNA isoform Dp140 (central nervous system).
ACCESSION   Dp140
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 99)
  AUTHORS   Lidov,H.G., Selig,S. and Kunkel,L.M.
  TITLE     Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
  JOURNAL   Hum. Mol. Genet. 4 (3), 329-335 (1995)
  MEDLINE   95315927
REFERENCE   2  (bases 1 to 99)
  AUTHORS   Lidov,H.G.W. and Kunkel,L.M.
  TITLE     Dp140: alternatively spliced isoforms in brain and kidney
  JOURNAL   Genomics 45, 132-139 (1997)
REFERENCE   3  (bases 1 to 7410)
  AUTHORS   den Dunnen,J.T.
  TITLE     Transcripts of the human dystrophin gene
  JOURNAL   Unpublished
  REMARK    More details regarding the nomenclature used, the annotations (e.g.
            proper references), RFLP's and mutations found in DMD, BMD and
            XLDCM patients, can be obtained from http://www.dmd.nl/
 
COMMENT     Constructed consensus sequence GenBank U90310, L35854 and M18533.
FEATURES             Location/Qualifiers
     source          1..7410
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /tissue_type="brain and kidney"
                     /dev_stage="adult"
     5'UTR           <1..1041
     misc_feature    <1042..1071
                     /note="Region: hinge region 3"
     CDS             1042..4719
                     /note="no dystrophin-unique N-terminus."
                     /codon_start=1
                     /product="dystrophin Dp140"
                     /translation="MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLE
                     DINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWD
                     EVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKI
                     TETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVS
                     EREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMK
                     QWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSL
                     NIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFK
                     RELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEE
                     VNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLI
                     DSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKL
                     LQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWD
                     HPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQND
                     QPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFK
                     TGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSN
                     IEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNIC
                     KECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAK
                     VLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDD
                     THSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRS
                     PAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPT
                     SPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKV
                     NGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLN
                     NSFPSSRGRNTPGKPMREDTM"
     misc_feature    <1042..2781
                     /note="Region: central rod domain"
     misc_feature    1072..1392
                     /note="Region: repeat region 20"
     misc_feature    1393..1719
                     /note="Region: repeat region 21"
     misc_feature    1720..2067
                     /note="Region: repeat region 22"
     misc_feature    2068..2454
                     /note="Region: repeat region 23"
     misc_feature    2455..2781
                     /note="Region: repeat region 24"
     misc_feature    2701..2997
                     /note="Region: hinge region 4"
     misc_feature    2827..2937
                     /note="Region: WW-domain"
     misc_feature    2899..3885
                     /note="dystroglycan binding site"
     misc_feature    2959..3561
                     /note="Region: Cysteine-rich domain"
     misc_feature    3049..3132
                     /note="Region: EF-hand 1"
     misc_feature    3193..3279
                     /note="Region: EF-hand 2"
     misc_feature    3559..4716
                     /note="Region: Carboxy-terminal region"
     misc_feature    3580..3723
                     /note="Region: ZZ-domain"
     misc_feature    3991..4143
                     /note="alpha1-syntrophin binding site"
     misc_feature    4144..4266
                     /note="beta1-syntrophin binding site"
     misc_feature    4144..4266
                     /note="Region: beta1-syntrophin binding site"
     misc_feature    4333..4440
                     /note="Region: (Leu)6-heptad repeat"
     3'UTR           4720..7410
     polyA_signal    7388..7393
     polyA_site      7410
BASE COUNT     2312 a   1539 c   1607 g   1952 t
ORIGIN
        1 acactagcaa tggcaaagct ttgtgcggag gcattgctgg ctgctctgaa ctaaaagcat
       61 ccgtggggac cgaaagaggt ttttgcacac cttattaagg aactccagga tggcattggg
      121 cagcggcaaa ctgttgtcag aacattgaat gcaactgggg aagaaataat tcagcaatcc
      181 tcaaaaacag atgccagtat tctacaggaa aaattgggaa gcctgaatct gcggtggcag
      241 gaggtctgca aacagctgtc agacagaaaa aagaggctag aagaacaaaa gaatatcttg
      301 tcagaatttc aaagagattt aaatgaattt gttttatggt tggaggaagc agataacatt
      361 gctagtatcc cacttgaacc tggaaaagag cagcaactaa aagaaaagct tgagcaagtc
      421 aagttactgg tggaagagtt gcccctgcgc cagggaattc tcaaacaatt aaatgaaact
      481 ggaggacccg tgcttgtaag tgctcccata agcccagaag agcaagataa acttgaaaat
      541 aagctcaagc agacaaatct ccagtggata aaggtttcca gagctttacc tgagaaacaa
      601 ggagaaattg aagctcaaat aaaagacctt gggcagcttg aaaaaaagct tgaagacctt
      661 gaagagcagt taaatcatct gctgctgtgg ttatctccta ttaggaatca gttggaaatt
      721 tataaccaac caaaccaaga aggaccattt gacgttcagg aaactgaaat agcagttcaa
      781 gctaaacaac cggatgtgga agagattttg tctaaagggc agcatttgta caaggaaaaa
      841 ccagccactc agccagtgaa gaggaagtta gaagatctga gctctgagtg gaaggcggta
      901 aaccgtttac ttcaagagct gagggcaaag cagcctgacc tagctcctgg actgaccact
      961 attggagcct ctcctactca gactgttact ctggtgacac aacctgtggt tactaaggaa
     1021 actgccatct ccaaactaga aatgccatct tccttgatgt tggaggtacc tgctctggca
     1081 gatttcaacc gggcttggac agaacttacc gactggcttt ctctgcttga tcaagttata
     1141 aaatcacaga gggtgatggt gggtgacctt gaggatatca acgagatgat catcaagcag
     1201 aaggcaacaa tgcaggattt ggaacagagg cgtccccagt tggaagaact cattaccgct
     1261 gcccaaaatt tgaaaaacaa gaccagcaat caagaggcta gaacaatcat tacggatcga
     1321 attgaaagaa ttcagaatca gtgggatgaa gtacaagaac accttcagaa ccggaggcaa
     1381 cagttgaatg aaatgttaaa ggattcaaca caatggctgg aagctaagga agaagctgag
     1441 caggtcttag gacaggccag agccaagctt gagtcatgga aggagggtcc ctatacagta
     1501 gatgcaatcc aaaagaaaat cacagaaacc aagcagttgg ccaaagacct ccgccagtgg
     1561 cagacaaatg tagatgtggc aaatgacttg gccctgaaac ttctccggga ttattctgca
     1621 gatgatacca gaaaagtcca catgataaca gagaatatca atgcctcttg gagaagcatt
     1681 cataaaaggg tgagtgagcg agaggctgct ttggaagaaa ctcatagatt actgcaacag
     1741 ttccccctgg acctggaaaa gtttcttgcc tggcttacag aagctgaaac aactgccaat
     1801 gtcctacagg atgctacccg taaggaaagg ctcctagaag actccaaggg agtaaaagag
     1861 ctgatgaaac aatggcaaga cctccaaggt gaaattgaag ctcacacaga tgtttatcac
     1921 aacctggatg aaaacagcca aaaaatcctg agatccctgg aaggttccga tgatgcagtc
     1981 ctgttacaaa gacgtttgga taacatgaac ttcaagtgga gtgaacttcg gaaaaagtct
     2041 ctcaacatta ggtcccattt ggaagccagt tctgaccagt ggaagcgtct gcacctttct
     2101 ctgcaggaac ttctggtgtg gctacagctg aaagatgatg aattaagccg gcaggcacct
     2161 attggaggcg actttccagc agttcagaag cagaacgatg tacatagggc cttcaagagg
     2221 gaattgaaaa ctaaagaacc tgtaatcatg agtactcttg agactgtacg aatatttctg
     2281 acagagcagc ctttggaagg actagagaaa ctctaccagg agcccagaga gctgcctcct
     2341 gaggagagag cccagaatgt cactcggctt ctacgaaagc aggctgagga ggtcaatact
     2401 gagtgggaaa aattgaacct gcactccgct gactggcaga gaaaaataga tgagaccctt
     2461 gaaagactcc aggaacttca agaggccacg gatgagctgg acctcaagct gcgccaagct
     2521 gaggtgatca agggatcctg gcagcccgtg ggcgatctcc tcattgactc tctccaagat
     2581 cacctcgaga aagtcaaggc acttcgagga gaaattgcgc ctctgaaaga gaacgtgagc
     2641 cacgtcaatg accttgctcg ccagcttacc actttgggca ttcagctctc accgtataac
     2701 ctcagcactc tggaagacct gaacaccaga tggaagcttc tgcaggtggc cgtcgaggac
     2761 cgagtcaggc agctgcatga agcccacagg gactttggtc cagcatctca gcactttctt
     2821 tccacgtctg tccagggtcc ctgggagaga gccatctcgc caaacaaagt gccctactat
     2881 atcaaccacg agactcaaac aacttgctgg gaccatccca aaatgacaga gctctaccag
     2941 tctttagctg acctgaataa tgtcagattc tcagcttata ggactgccat gaaactccga
     3001 agactgcaga aggccctttg cttggatctc ttgagcctgt cagctgcatg tgatgccttg
     3061 gaccagcaca acctcaagca aaatgaccag cccatggata tcctgcagat tattaattgt
     3121 ttgaccacta tttatgaccg cctggagcaa gagcacaaca atttggtcaa cgtccctctc
     3181 tgcgtggata tgtgtctgaa ctggctgctg aatgtttatg atacgggacg aacagggagg
     3241 atccgtgtcc tgtcttttaa aactggcatc atttccctgt gtaaagcaca tttggaagac
     3301 aagtacagat accttttcaa gcaagtggca agttcaacag gattttgtga ccagcgcagg
     3361 ctgggcctcc ttctgcatga ttctatccaa attccaagac agttgggtga agttgcatcc
     3421 tttgggggca gtaacattga gccaagtgtc cggagctgct tccaatttgc taataataag
     3481 ccagagatcg aagcggccct cttcctagac tggatgagac tggaacccca gtccatggtg
     3541 tggctgcccg tcctgcacag agtggctgct gcagaaactg ccaagcatca ggccaaatgt
     3601 aacatctgca aagagtgtcc aatcattgga ttcaggtaca ggagtctaaa gcactttaat
     3661 tatgacatct gccaaagctg ctttttttct ggtcgagttg caaaaggcca taaaatgcac
     3721 tatcccatgg tggaatattg cactccgact acatcaggag aagatgttcg agactttgcc
     3781 aaggtactaa aaaacaaatt tcgaaccaaa aggtattttg cgaagcatcc ccgaatgggc
     3841 tacctgccag tgcagactgt cttagagggg gacaacatgg aaactcccgt tactctgatc
     3901 aacttctggc cagtagattc tgcgcctgcc tcgtcccctc agctttcaca cgatgatact
     3961 cattcacgca ttgaacatta tgctagcagg ctagcagaaa tggaaaacag caatggatct
     4021 tatctaaatg atagcatctc tcctaatgag agcatagatg atgaacattt gttaatccag
     4081 cattactgcc aaagtttgaa ccaggactcc cccctgagcc agcctcgtag tcctgcccag
     4141 atcttgattt ccttagagag tgaggaaaga ggggagctag agagaatcct agcagatctt
     4201 gaggaagaaa acaggaatct gcaagcagaa tatgaccgtc taaagcagca gcacgaacat
     4261 aaaggcctgt ccccactgcc gtcccctcct gaaatgatgc ccacctctcc ccagagtccc
     4321 cgggatgctg agctcattgc tgaggccaag ctactgcgtc aacacaaagg ccgcctggaa
     4381 gccaggatgc aaatcctgga agaccacaat aaacagctgg agtcacagtt acacaggcta
     4441 aggcagctgc tggagcaacc ccaggcagag gccaaagtga atggcacaac ggtgtcctct
     4501 ccttctacct ctctacagag gtccgacagc agtcagccta tgctgctccg agtggttggc
     4561 agtcaaactt cggactccat gggtgaggaa gatcttctca gtcctcccca ggacacaagc
     4621 acagggttag aggaggtgat ggagcaactc aacaactcct tccctagttc aagaggaaga
     4681 aatacccctg gaaagccaat gagagaggac acaatgtagg aagtcttttc cacatggcag
     4741 atgatttggg cagagcgatg gagtccttag tatcagtcat gacagatgaa gaaggagcag
     4801 aataaatgtt ttacaactcc tgattcccgc atggttttta taatattcat acaacaaaga
     4861 ggattagaca gtaagagttt acaagaaata aatctatatt tttgtgaagg gtagtggtat
     4921 tatactgtag atttcagtag tttctaagtc tgttattgtt ttgttaacaa tggcaggttt
     4981 tacacgtcta tgcaattgta caaaaaagtt ataagaaaac tacatgtaaa atcttgatag
     5041 ctaaataact tgccatttct ttatatggaa cgcattttgg gttgtttaaa aatttataac
     5101 agttataaag aaagattgta aactaaagtg tgctttataa aaaaaagttg tttataaaaa
     5161 cccctaaaaa caaaacaaac acacacacac acacatacac acacacacac aaaactttga
     5221 ggcagcgcat tgttttgcat ccttttggcg tgatatccat atgaaattca tggctttttc
     5281 tttttttgca tattaaagat aagacttcct ctaccaccac accaaatgac tactacacac
     5341 tgctcatttg agaactgtca gctgagtggg gcaggcttga gttttcattt catatatcta
     5401 tatgtctata agtatataaa tactatagtt atatagataa agagatacga atttctatag
     5461 actgactttt tccatttttt aaatgttcat gtcacatcct aatagaaaga aattacttct
     5521 agtcagtcat ccaggcttac ctgcttggtc tagaatggat ttttcccgga gccggaagcc
     5581 aggaggaaac tacaccacac taaaacattg tctacagctc cagatgtttc tcattttaaa
     5641 caactttcca ctgacaacga aagtaaagta aagtattgga tttttttaaa gggaacatgt
     5701 gaatgaatac acaggactta ttatatcaga gtgagtaatc ggttggttgg ttgattgatt
     5761 gattgattga tacattcagc ttcctgctgc tagcaatgcc acgatttaga tttaatgatg
     5821 cttcagtgga aatcaatcag aaggtattct gaccttgtga acatcagaag gtatttttta
     5881 actcccaagc agtagcagga cgatgatagg gctggagggc tatggattcc cagcccatcc
     5941 ctgtgaagga gtaggccact ctttaagtga aggattggat gattgttcat aatacataaa
     6001 gttctctgta attacaacta aattattatg ccctcttctc acagtcaaaa ggaactgggt
     6061 ggtttggttt ttgttgcttt tttagattta ttgtcccatg tgggatgagt ttttaaatgc
     6121 cacaagacat aatttaaaat aaataaactt tgggaaaagg tgtaagacag tagccccatc
     6181 acatttgtga tactgacagg tatcaaccca gaagcccatg aactgtgttt ccatcctttg
     6241 catttctctg cgagtagttc cacacaggtt tgtaagtaag taagaaagaa ggcaaattga
     6301 ttcaaatgtt acaaaaaaac ccttcttggt ggattagaca ggttaaatat ataaacaaac
     6361 aaacaaaaat tgctcaaaaa agaggagaaa agctcaagag gaaaagctaa ggactggtag
     6421 gaaaaagctt tactctttca tgccatttta tttctttttg atttttaaat cattcattca
     6481 atagatacca ccgtgtgacc tataattttg caaatctgtt acctctgaca tcaagtgtaa
     6541 ttagcttttg gagagtgggc tgacatcaag tgtaattagc ttttggagag tgggttttgt
     6601 ccattattaa taattaatta attaacatca aacacggctt ctcatgctat ttctacctca
     6661 ctttggtttt ggggtgttcc tgataattgt gcacacctga gttcacagct tcaccacttg
     6721 tccattgcgt tattttcttt ttcctttata attctttctt tttccttcat aattttcaaa
     6781 agaaaaccca aagctctaag gtaacaaatt accaaattac atgaagattt ggtttttgtc
     6841 ttgcattttt ttcctttatg tgacgctgga ccttttcttt acccaaggat ttttaaaact
     6901 cagatttaaa acaaggggtt actttacatc ctactaagaa gtttaagtaa gtaagtttca
     6961 ttctaaaatc agaggtaaat agagtgcata aataattttg ttttaatctt tttgtttttc
     7021 ttttagacac attagctctg gagtgagtct gtcataatat ttgaacaaaa attgagagct
     7081 ttattgctgc attttaagca taattaattt ggacattatt tcgtgttgtg ttctttataa
     7141 ccaccgagta ttaaactgta aatcataatg taactgaagc ataaacatca catggcatgt
     7201 tttgtcattg ttttcaggta ctgagttctt acttgagtat cataatatat tgtgttttaa
     7261 caccaacact gtaacattta cgaattattt ttttaaactt cagttttact gcattttcac
     7321 aacatatcag acttcaccaa atatatgcct tactattgta ttatagtact gctttactgt
     7381 gtatctcaat aaagcacgca gttatgttac


LOCUS       Dp140c       7050 bp    mRNA            PRI       20-JAN-1998
DEFINITION  Dp140 Human dystrophin cDNA isoform Dp140 (cerebellum).
ACCESSION   Dp140c
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 99)
  AUTHORS   Lidov,H.G., Selig,S. and Kunkel,L.M.
  TITLE     Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
  JOURNAL   Hum. Mol. Genet. 4 (3), 329-335 (1995)
  MEDLINE   95315927
REFERENCE   2  (bases 1 to 99)
  AUTHORS   Lidov,H.G.W. and Kunkel,L.M.
  TITLE     Dp140: alternatively spliced isoforms in brain and kidney
  JOURNAL   Genomics 45, 132-139 (1997)
REFERENCE   3  (bases 1 to 7050)
  AUTHORS   den Dunnen,J.T.
  TITLE     Transcripts of the human dystrophin gene
  JOURNAL   Unpublished
  REMARK    More details regarding the nomenclature used, the annotations (e.g.
            proper references), RFLP's and mutations found in DMD, BMD and
            XLDCM patients, can be obtained from http://www.dmd.nl/
 
FEATURES             Location/Qualifiers
     source          1..7050
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     5'UTR           <1..1041
     misc_feature    <1042..2781
                     /note="Region: central rod domain"
     misc_feature    <1042..1071
                     /note="Region: hinge region 3"
     CDS             1042..4359
                     /codon_start=1
                     /product="dystrophin Dp140c"
                     /translation="MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLE
                     DINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWD
                     EVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKI
                     TETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVS
                     EREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMK
                     QWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSL
                     NIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFK
                     RELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEE
                     VNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLI
                     DSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKL
                     LQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWD
                     HPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQND
                     QPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFK
                     TGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSN
                     IEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNIC
                     KECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAK
                     VLKNKFRTKRYFAKHPRMGYLPVQNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQS
                     PRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTT
                     VSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFP
                     SSRGRNTPGKPMREDTM"
     misc_feature    1072..1392
                     /note="Region: repeat region 20"
     misc_feature    1393..1719
                     /note="Region: repeat region 21"
     misc_feature    1720..2067
                     /note="Region: repeat region 22"
     misc_feature    2068..2454
                     /note="Region: repeat region 23"
     misc_feature    2455..2781
                     /note="Region: repeat region 24"
     misc_feature    2701..2997
                     /note="Region: hinge region 4"
     misc_feature    2827..2937
                     /note="Region: WW-domain"
     misc_feature    2899..3855
                     /note="dystroglycan binding site"
     misc_feature    2959..3561
                     /note="Region: Cysteine-rich domain"
     misc_feature    3049..3132
                     /note="Region: EF-hand 1"
     misc_feature    3193..3279
                     /note="Region: EF-hand 2"
     misc_feature    3559..4356
                     /note="Region: Carboxy-terminal region"
     misc_feature    3580..3723
                     /note="Region: ZZ-domain"
     misc_feature    3856..3906
                     /note="beta1-syntrophin binding site"
     misc_feature    3856..3906
                     /note="Region: beta1-syntrophin binding site"
     misc_feature    3973..4080
                     /note="Region: (Leu)6-heptad repeat"
     3'UTR           4360..7050
     polyA_signal    7028..7033
     polyA_site      7050
BASE COUNT     2206 a   1453 c   1526 g   1865 t
ORIGIN
        1 acactagcaa tggcaaagct ttgtgcggag gcattgctgg ctgctctgaa ctaaaagcat
       61 ccgtggggac cgaaagaggt ttttgcacac cttattaagg aactccagga tggcattggg
      121 cagcggcaaa ctgttgtcag aacattgaat gcaactgggg aagaaataat tcagcaatcc
      181 tcaaaaacag atgccagtat tctacaggaa aaattgggaa gcctgaatct gcggtggcag
      241 gaggtctgca aacagctgtc agacagaaaa aagaggctag aagaacaaaa gaatatcttg
      301 tcagaatttc aaagagattt aaatgaattt gttttatggt tggaggaagc agataacatt
      361 gctagtatcc cacttgaacc tggaaaagag cagcaactaa aagaaaagct tgagcaagtc
      421 aagttactgg tggaagagtt gcccctgcgc cagggaattc tcaaacaatt aaatgaaact
      481 ggaggacccg tgcttgtaag tgctcccata agcccagaag agcaagataa acttgaaaat
      541 aagctcaagc agacaaatct ccagtggata aaggtttcca gagctttacc tgagaaacaa
      601 ggagaaattg aagctcaaat aaaagacctt gggcagcttg aaaaaaagct tgaagacctt
      661 gaagagcagt taaatcatct gctgctgtgg ttatctccta ttaggaatca gttggaaatt
      721 tataaccaac caaaccaaga aggaccattt gacgttcagg aaactgaaat agcagttcaa
      781 gctaaacaac cggatgtgga agagattttg tctaaagggc agcatttgta caaggaaaaa
      841 ccagccactc agccagtgaa gaggaagtta gaagatctga gctctgagtg gaaggcggta
      901 aaccgtttac ttcaagagct gagggcaaag cagcctgacc tagctcctgg actgaccact
      961 attggagcct ctcctactca gactgttact ctggtgacac aacctgtggt tactaaggaa
     1021 actgccatct ccaaactaga aatgccatct tccttgatgt tggaggtacc tgctctggca
     1081 gatttcaacc gggcttggac agaacttacc gactggcttt ctctgcttga tcaagttata
     1141 aaatcacaga gggtgatggt gggtgacctt gaggatatca acgagatgat catcaagcag
     1201 aaggcaacaa tgcaggattt ggaacagagg cgtccccagt tggaagaact cattaccgct
     1261 gcccaaaatt tgaaaaacaa gaccagcaat caagaggcta gaacaatcat tacggatcga
     1321 attgaaagaa ttcagaatca gtgggatgaa gtacaagaac accttcagaa ccggaggcaa
     1381 cagttgaatg aaatgttaaa ggattcaaca caatggctgg aagctaagga agaagctgag
     1441 caggtcttag gacaggccag agccaagctt gagtcatgga aggagggtcc ctatacagta
     1501 gatgcaatcc aaaagaaaat cacagaaacc aagcagttgg ccaaagacct ccgccagtgg
     1561 cagacaaatg tagatgtggc aaatgacttg gccctgaaac ttctccggga ttattctgca
     1621 gatgatacca gaaaagtcca catgataaca gagaatatca atgcctcttg gagaagcatt
     1681 cataaaaggg tgagtgagcg agaggctgct ttggaagaaa ctcatagatt actgcaacag
     1741 ttccccctgg acctggaaaa gtttcttgcc tggcttacag aagctgaaac aactgccaat
     1801 gtcctacagg atgctacccg taaggaaagg ctcctagaag actccaaggg agtaaaagag
     1861 ctgatgaaac aatggcaaga cctccaaggt gaaattgaag ctcacacaga tgtttatcac
     1921 aacctggatg aaaacagcca aaaaatcctg agatccctgg aaggttccga tgatgcagtc
     1981 ctgttacaaa gacgtttgga taacatgaac ttcaagtgga gtgaacttcg gaaaaagtct
     2041 ctcaacatta ggtcccattt ggaagccagt tctgaccagt ggaagcgtct gcacctttct
     2101 ctgcaggaac ttctggtgtg gctacagctg aaagatgatg aattaagccg gcaggcacct
     2161 attggaggcg actttccagc agttcagaag cagaacgatg tacatagggc cttcaagagg
     2221 gaattgaaaa ctaaagaacc tgtaatcatg agtactcttg agactgtacg aatatttctg
     2281 acagagcagc ctttggaagg actagagaaa ctctaccagg agcccagaga gctgcctcct
     2341 gaggagagag cccagaatgt cactcggctt ctacgaaagc aggctgagga ggtcaatact
     2401 gagtgggaaa aattgaacct gcactccgct gactggcaga gaaaaataga tgagaccctt
     2461 gaaagactcc aggaacttca agaggccacg gatgagctgg acctcaagct gcgccaagct
     2521 gaggtgatca agggatcctg gcagcccgtg ggcgatctcc tcattgactc tctccaagat
     2581 cacctcgaga aagtcaaggc acttcgagga gaaattgcgc ctctgaaaga gaacgtgagc
     2641 cacgtcaatg accttgctcg ccagcttacc actttgggca ttcagctctc accgtataac
     2701 ctcagcactc tggaagacct gaacaccaga tggaagcttc tgcaggtggc cgtcgaggac
     2761 cgagtcaggc agctgcatga agcccacagg gactttggtc cagcatctca gcactttctt
     2821 tccacgtctg tccagggtcc ctgggagaga gccatctcgc caaacaaagt gccctactat
     2881 atcaaccacg agactcaaac aacttgctgg gaccatccca aaatgacaga gctctaccag
     2941 tctttagctg acctgaataa tgtcagattc tcagcttata ggactgccat gaaactccga
     3001 agactgcaga aggccctttg cttggatctc ttgagcctgt cagctgcatg tgatgccttg
     3061 gaccagcaca acctcaagca aaatgaccag cccatggata tcctgcagat tattaattgt
     3121 ttgaccacta tttatgaccg cctggagcaa gagcacaaca atttggtcaa cgtccctctc
     3181 tgcgtggata tgtgtctgaa ctggctgctg aatgtttatg atacgggacg aacagggagg
     3241 atccgtgtcc tgtcttttaa aactggcatc atttccctgt gtaaagcaca tttggaagac
     3301 aagtacagat accttttcaa gcaagtggca agttcaacag gattttgtga ccagcgcagg
     3361 ctgggcctcc ttctgcatga ttctatccaa attccaagac agttgggtga agttgcatcc
     3421 tttgggggca gtaacattga gccaagtgtc cggagctgct tccaatttgc taataataag
     3481 ccagagatcg aagcggccct cttcctagac tggatgagac tggaacccca gtccatggtg
     3541 tggctgcccg tcctgcacag agtggctgct gcagaaactg ccaagcatca ggccaaatgt
     3601 aacatctgca aagagtgtcc aatcattgga ttcaggtaca ggagtctaaa gcactttaat
     3661 tatgacatct gccaaagctg ctttttttct ggtcgagttg caaaaggcca taaaatgcac
     3721 tatcccatgg tggaatattg cactccgact acatcaggag aagatgttcg agactttgcc
     3781 aaggtactaa aaaacaaatt tcgaaccaaa aggtattttg cgaagcatcc ccgaatgggc
     3841 tacctgccag tgcagaatct gcaagcagaa tatgaccgtc taaagcagca gcacgaacat
     3901 aaaggcctgt ccccactgcc gtcccctcct gaaatgatgc ccacctctcc ccagagtccc
     3961 cgggatgctg agctcattgc tgaggccaag ctactgcgtc aacacaaagg ccgcctggaa
     4021 gccaggatgc aaatcctgga agaccacaat aaacagctgg agtcacagtt acacaggcta
     4081 aggcagctgc tggagcaacc ccaggcagag gccaaagtga atggcacaac ggtgtcctct
     4141 ccttctacct ctctacagag gtccgacagc agtcagccta tgctgctccg agtggttggc
     4201 agtcaaactt cggactccat gggtgaggaa gatcttctca gtcctcccca ggacacaagc
     4261 acagggttag aggaggtgat ggagcaactc aacaactcct tccctagttc aagaggaaga
     4321 aatacccctg gaaagccaat gagagaggac acaatgtagg aagtcttttc cacatggcag
     4381 atgatttggg cagagcgatg gagtccttag tatcagtcat gacagatgaa gaaggagcag
     4441 aataaatgtt ttacaactcc tgattcccgc atggttttta taatattcat acaacaaaga
     4501 ggattagaca gtaagagttt acaagaaata aatctatatt tttgtgaagg gtagtggtat
     4561 tatactgtag atttcagtag tttctaagtc tgttattgtt ttgttaacaa tggcaggttt
     4621 tacacgtcta tgcaattgta caaaaaagtt ataagaaaac tacatgtaaa atcttgatag
     4681 ctaaataact tgccatttct ttatatggaa cgcattttgg gttgtttaaa aatttataac
     4741 agttataaag aaagattgta aactaaagtg tgctttataa aaaaaagttg tttataaaaa
     4801 cccctaaaaa caaaacaaac acacacacac acacatacac acacacacac aaaactttga
     4861 ggcagcgcat tgttttgcat ccttttggcg tgatatccat atgaaattca tggctttttc
     4921 tttttttgca tattaaagat aagacttcct ctaccaccac accaaatgac tactacacac
     4981 tgctcatttg agaactgtca gctgagtggg gcaggcttga gttttcattt catatatcta
     5041 tatgtctata agtatataaa tactatagtt atatagataa agagatacga atttctatag
     5101 actgactttt tccatttttt aaatgttcat gtcacatcct aatagaaaga aattacttct
     5161 agtcagtcat ccaggcttac ctgcttggtc tagaatggat ttttcccgga gccggaagcc
     5221 aggaggaaac tacaccacac taaaacattg tctacagctc cagatgtttc tcattttaaa
     5281 caactttcca ctgacaacga aagtaaagta aagtattgga tttttttaaa gggaacatgt
     5341 gaatgaatac acaggactta ttatatcaga gtgagtaatc ggttggttgg ttgattgatt
     5401 gattgattga tacattcagc ttcctgctgc tagcaatgcc acgatttaga tttaatgatg
     5461 cttcagtgga aatcaatcag aaggtattct gaccttgtga acatcagaag gtatttttta
     5521 actcccaagc agtagcagga cgatgatagg gctggagggc tatggattcc cagcccatcc
     5581 ctgtgaagga gtaggccact ctttaagtga aggattggat gattgttcat aatacataaa
     5641 gttctctgta attacaacta aattattatg ccctcttctc acagtcaaaa ggaactgggt
     5701 ggtttggttt ttgttgcttt tttagattta ttgtcccatg tgggatgagt ttttaaatgc
     5761 cacaagacat aatttaaaat aaataaactt tgggaaaagg tgtaagacag tagccccatc
     5821 acatttgtga tactgacagg tatcaaccca gaagcccatg aactgtgttt ccatcctttg
     5881 catttctctg cgagtagttc cacacaggtt tgtaagtaag taagaaagaa ggcaaattga
     5941 ttcaaatgtt acaaaaaaac ccttcttggt ggattagaca ggttaaatat ataaacaaac
     6001 aaacaaaaat tgctcaaaaa agaggagaaa agctcaagag gaaaagctaa ggactggtag
     6061 gaaaaagctt tactctttca tgccatttta tttctttttg atttttaaat cattcattca
     6121 atagatacca ccgtgtgacc tataattttg caaatctgtt acctctgaca tcaagtgtaa
     6181 ttagcttttg gagagtgggc tgacatcaag tgtaattagc ttttggagag tgggttttgt
     6241 ccattattaa taattaatta attaacatca aacacggctt ctcatgctat ttctacctca
     6301 ctttggtttt ggggtgttcc tgataattgt gcacacctga gttcacagct tcaccacttg
     6361 tccattgcgt tattttcttt ttcctttata attctttctt tttccttcat aattttcaaa
     6421 agaaaaccca aagctctaag gtaacaaatt accaaattac atgaagattt ggtttttgtc
     6481 ttgcattttt ttcctttatg tgacgctgga ccttttcttt acccaaggat ttttaaaact
     6541 cagatttaaa acaaggggtt actttacatc ctactaagaa gtttaagtaa gtaagtttca
     6601 ttctaaaatc agaggtaaat agagtgcata aataattttg ttttaatctt tttgtttttc
     6661 ttttagacac attagctctg gagtgagtct gtcataatat ttgaacaaaa attgagagct
     6721 ttattgctgc attttaagca taattaattt ggacattatt tcgtgttgtg ttctttataa
     6781 ccaccgagta ttaaactgta aatcataatg taactgaagc ataaacatca catggcatgt
     6841 tttgtcattg ttttcaggta ctgagttctt acttgagtat cataatatat tgtgttttaa
     6901 caccaacact gtaacattta cgaattattt ttttaaactt cagttttact gcattttcac
     6961 aacatatcag acttcaccaa atatatgcct tactattgta ttatagtact gctttactgt
     7021 gtatctcaat aaagcacgca gttatgttac


LOCUS       Dp140b       7378 bp    mRNA            PRI       20-JAN-1998
DEFINITION  Dp140b Human dystrophin cDNA isoform Dp140b (kidney).
ACCESSION   Dp140b
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 99)
  AUTHORS   Lidov,H.G., Selig,S. and Kunkel,L.M.
  TITLE     Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
  JOURNAL   Hum. Mol. Genet. 4 (3), 329-335 (1995)
  MEDLINE   95315927
REFERENCE   2  (bases 1 to 99)
  AUTHORS   Lidov,H.G.W. and Kunkel,L.M.
  TITLE     Dp140: alternatively spliced isoforms in brain and kidney
  JOURNAL   Genomics 45, 132-139 (1997)
REFERENCE   3  (bases 1 to 7378)
  AUTHORS   den Dunnen,J.T.
  TITLE     Transcripts of the human dystrophin gene
  JOURNAL   Unpublished
  REMARK    More details regarding the nomenclature used, the annotations (e.g.
            proper references), RFLP's and mutations found in DMD, BMD and
            XLDCM patients, can be obtained from http://www.dmd.nl/
 
FEATURES             Location/Qualifiers
     source          1..7378
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     5'UTR           <1..1041
                     <1042..4716
     misc_feature    <1042..1071
                     /note="Region: hinge region 3"
     CDS             1042..4773
                     /codon_start=1
                     /product="dystrophin Dp140b"
                     /translation="MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLE
                     DINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWD
                     EVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKI
                     TETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVS
                     EREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMK
                     QWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSL
                     NIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFK
                     RELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEE
                     VNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLI
                     DSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKL
                     LQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWD
                     HPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQND
                     QPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFK
                     TGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSN
                     IEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNIC
                     KECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAK
                     VLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDD
                     THSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRS
                     PAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPT
                     SPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKV
                     NGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLN
                     NSFPSSRGHNVGSLFHMADDLGRAMESLVSVMTDEEGAE"
     misc_feature    <1042..2781
                     /note="Region: central rod domain"
     misc_feature    1072..1392
                     /note="Region: repeat region 20"
     misc_feature    1393..1719
                     /note="Region: repeat region 21"
     misc_feature    1720..2067
                     /note="Region: repeat region 22"
     misc_feature    2068..2454
                     /note="Region: repeat region 23"
     misc_feature    2455..2781
                     /note="Region: repeat region 24"
     misc_feature    2701..2997
                     /note="Region: hinge region 4"
     misc_feature    2827..2937
                     /note="Region: WW-domain"
     misc_feature    2899..3885
                     /note="dystroglycan binding site"
     misc_feature    2959..3561
                     /note="Region: Cysteine-rich domain"
     misc_feature    3049..3132
                     /note="Region: EF-hand 1"
     misc_feature    3193..3279
                     /note="Region: EF-hand 2"
     misc_feature    3559..4716
                     /note="Region: Carboxy-terminal region"
     misc_feature    3580..3723
                     /note="Region: ZZ-domain"
     misc_feature    3991..4143
                     /note="alpha1-syntrophin binding site"
     misc_feature    4144..4266
                     /note="beta1-syntrophin binding site"
     misc_feature    4144..4266
                     /note="Region: beta1-syntrophin binding site"
     misc_feature    4333..4440
                     /note="Region: (Leu)6-heptad repeat"
     3'UTR           4774..7378
     polyA_signal    7356..7361
     polyA_site      7378
BASE COUNT     2298 a   1533 c   1598 g   1949 t
ORIGIN
        1 acactagcaa tggcaaagct ttgtgcggag gcattgctgg ctgctctgaa ctaaaagcat
       61 ccgtggggac cgaaagaggt ttttgcacac cttattaagg aactccagga tggcattggg
      121 cagcggcaaa ctgttgtcag aacattgaat gcaactgggg aagaaataat tcagcaatcc
      181 tcaaaaacag atgccagtat tctacaggaa aaattgggaa gcctgaatct gcggtggcag
      241 gaggtctgca aacagctgtc agacagaaaa aagaggctag aagaacaaaa gaatatcttg
      301 tcagaatttc aaagagattt aaatgaattt gttttatggt tggaggaagc agataacatt
      361 gctagtatcc cacttgaacc tggaaaagag cagcaactaa aagaaaagct tgagcaagtc
      421 aagttactgg tggaagagtt gcccctgcgc cagggaattc tcaaacaatt aaatgaaact
      481 ggaggacccg tgcttgtaag tgctcccata agcccagaag agcaagataa acttgaaaat
      541 aagctcaagc agacaaatct ccagtggata aaggtttcca gagctttacc tgagaaacaa
      601 ggagaaattg aagctcaaat aaaagacctt gggcagcttg aaaaaaagct tgaagacctt
      661 gaagagcagt taaatcatct gctgctgtgg ttatctccta ttaggaatca gttggaaatt
      721 tataaccaac caaaccaaga aggaccattt gacgttcagg aaactgaaat agcagttcaa
      781 gctaaacaac cggatgtgga agagattttg tctaaagggc agcatttgta caaggaaaaa
      841 ccagccactc agccagtgaa gaggaagtta gaagatctga gctctgagtg gaaggcggta
      901 aaccgtttac ttcaagagct gagggcaaag cagcctgacc tagctcctgg actgaccact
      961 attggagcct ctcctactca gactgttact ctggtgacac aacctgtggt tactaaggaa
     1021 actgccatct ccaaactaga aatgccatct tccttgatgt tggaggtacc tgctctggca
     1081 gatttcaacc gggcttggac agaacttacc gactggcttt ctctgcttga tcaagttata
     1141 aaatcacaga gggtgatggt gggtgacctt gaggatatca acgagatgat catcaagcag
     1201 aaggcaacaa tgcaggattt ggaacagagg cgtccccagt tggaagaact cattaccgct
     1261 gcccaaaatt tgaaaaacaa gaccagcaat caagaggcta gaacaatcat tacggatcga
     1321 attgaaagaa ttcagaatca gtgggatgaa gtacaagaac accttcagaa ccggaggcaa
     1381 cagttgaatg aaatgttaaa ggattcaaca caatggctgg aagctaagga agaagctgag
     1441 caggtcttag gacaggccag agccaagctt gagtcatgga aggagggtcc ctatacagta
     1501 gatgcaatcc aaaagaaaat cacagaaacc aagcagttgg ccaaagacct ccgccagtgg
     1561 cagacaaatg tagatgtggc aaatgacttg gccctgaaac ttctccggga ttattctgca
     1621 gatgatacca gaaaagtcca catgataaca gagaatatca atgcctcttg gagaagcatt
     1681 cataaaaggg tgagtgagcg agaggctgct ttggaagaaa ctcatagatt actgcaacag
     1741 ttccccctgg acctggaaaa gtttcttgcc tggcttacag aagctgaaac aactgccaat
     1801 gtcctacagg atgctacccg taaggaaagg ctcctagaag actccaaggg agtaaaagag
     1861 ctgatgaaac aatggcaaga cctccaaggt gaaattgaag ctcacacaga tgtttatcac
     1921 aacctggatg aaaacagcca aaaaatcctg agatccctgg aaggttccga tgatgcagtc
     1981 ctgttacaaa gacgtttgga taacatgaac ttcaagtgga gtgaacttcg gaaaaagtct
     2041 ctcaacatta ggtcccattt ggaagccagt tctgaccagt ggaagcgtct gcacctttct
     2101 ctgcaggaac ttctggtgtg gctacagctg aaagatgatg aattaagccg gcaggcacct
     2161 attggaggcg actttccagc agttcagaag cagaacgatg tacatagggc cttcaagagg
     2221 gaattgaaaa ctaaagaacc tgtaatcatg agtactcttg agactgtacg aatatttctg
     2281 acagagcagc ctttggaagg actagagaaa ctctaccagg agcccagaga gctgcctcct
     2341 gaggagagag cccagaatgt cactcggctt ctacgaaagc aggctgagga ggtcaatact
     2401 gagtgggaaa aattgaacct gcactccgct gactggcaga gaaaaataga tgagaccctt
     2461 gaaagactcc aggaacttca agaggccacg gatgagctgg acctcaagct gcgccaagct
     2521 gaggtgatca agggatcctg gcagcccgtg ggcgatctcc tcattgactc tctccaagat
     2581 cacctcgaga aagtcaaggc acttcgagga gaaattgcgc ctctgaaaga gaacgtgagc
     2641 cacgtcaatg accttgctcg ccagcttacc actttgggca ttcagctctc accgtataac
     2701 ctcagcactc tggaagacct gaacaccaga tggaagcttc tgcaggtggc cgtcgaggac
     2761 cgagtcaggc agctgcatga agcccacagg gactttggtc cagcatctca gcactttctt
     2821 tccacgtctg tccagggtcc ctgggagaga gccatctcgc caaacaaagt gccctactat
     2881 atcaaccacg agactcaaac aacttgctgg gaccatccca aaatgacaga gctctaccag
     2941 tctttagctg acctgaataa tgtcagattc tcagcttata ggactgccat gaaactccga
     3001 agactgcaga aggccctttg cttggatctc ttgagcctgt cagctgcatg tgatgccttg
     3061 gaccagcaca acctcaagca aaatgaccag cccatggata tcctgcagat tattaattgt
     3121 ttgaccacta tttatgaccg cctggagcaa gagcacaaca atttggtcaa cgtccctctc
     3181 tgcgtggata tgtgtctgaa ctggctgctg aatgtttatg atacgggacg aacagggagg
     3241 atccgtgtcc tgtcttttaa aactggcatc atttccctgt gtaaagcaca tttggaagac
     3301 aagtacagat accttttcaa gcaagtggca agttcaacag gattttgtga ccagcgcagg
     3361 ctgggcctcc ttctgcatga ttctatccaa attccaagac agttgggtga agttgcatcc
     3421 tttgggggca gtaacattga gccaagtgtc cggagctgct tccaatttgc taataataag
     3481 ccagagatcg aagcggccct cttcctagac tggatgagac tggaacccca gtccatggtg
     3541 tggctgcccg tcctgcacag agtggctgct gcagaaactg ccaagcatca ggccaaatgt
     3601 aacatctgca aagagtgtcc aatcattgga ttcaggtaca ggagtctaaa gcactttaat
     3661 tatgacatct gccaaagctg ctttttttct ggtcgagttg caaaaggcca taaaatgcac
     3721 tatcccatgg tggaatattg cactccgact acatcaggag aagatgttcg agactttgcc
     3781 aaggtactaa aaaacaaatt tcgaaccaaa aggtattttg cgaagcatcc ccgaatgggc
     3841 tacctgccag tgcagactgt cttagagggg gacaacatgg aaactcccgt tactctgatc
     3901 aacttctggc cagtagattc tgcgcctgcc tcgtcccctc agctttcaca cgatgatact
     3961 cattcacgca ttgaacatta tgctagcagg ctagcagaaa tggaaaacag caatggatct
     4021 tatctaaatg atagcatctc tcctaatgag agcatagatg atgaacattt gttaatccag
     4081 cattactgcc aaagtttgaa ccaggactcc cccctgagcc agcctcgtag tcctgcccag
     4141 atcttgattt ccttagagag tgaggaaaga ggggagctag agagaatcct agcagatctt
     4201 gaggaagaaa acaggaatct gcaagcagaa tatgaccgtc taaagcagca gcacgaacat
     4261 aaaggcctgt ccccactgcc gtcccctcct gaaatgatgc ccacctctcc ccagagtccc
     4321 cgggatgctg agctcattgc tgaggccaag ctactgcgtc aacacaaagg ccgcctggaa
     4381 gccaggatgc aaatcctgga agaccacaat aaacagctgg agtcacagtt acacaggcta
     4441 aggcagctgc tggagcaacc ccaggcagag gccaaagtga atggcacaac ggtgtcctct
     4501 ccttctacct ctctacagag gtccgacagc agtcagccta tgctgctccg agtggttggc
     4561 agtcaaactt cggactccat gggtgaggaa gatcttctca gtcctcccca ggacacaagc
     4621 acagggttag aggaggtgat ggagcaactc aacaactcct tccctagttc aagaggacac
     4681 aatgtaggaa gtcttttcca catggcagat gatttgggca gagcgatgga gtccttagta
     4741 tcagtcatga cagatgaaga aggagcagaa taaatgtttt acaactcctg attcccgcat
     4801 ggtttttata atattcatac aacaaagagg attagacagt aagagtttac aagaaataaa
     4861 tctatatttt tgtgaagggt agtggtatta tactgtagat ttcagtagtt tctaagtctg
     4921 ttattgtttt gttaacaatg gcaggtttta cacgtctatg caattgtaca aaaaagttat
     4981 aagaaaacta catgtaaaat cttgatagct aaataacttg ccatttcttt atatggaacg
     5041 cattttgggt tgtttaaaaa tttataacag ttataaagaa agattgtaaa ctaaagtgtg
     5101 ctttataaaa aaaagttgtt tataaaaacc cctaaaaaca aaacaaacac acacacacac
     5161 acatacacac acacacacaa aactttgagg cagcgcattg ttttgcatcc ttttggcgtg
     5221 atatccatat gaaattcatg gctttttctt tttttgcata ttaaagataa gacttcctct
     5281 accaccacac caaatgacta ctacacactg ctcatttgag aactgtcagc tgagtggggc
     5341 aggcttgagt tttcatttca tatatctata tgtctataag tatataaata ctatagttat
     5401 atagataaag agatacgaat ttctatagac tgactttttc cattttttaa atgttcatgt
     5461 cacatcctaa tagaaagaaa ttacttctag tcagtcatcc aggcttacct gcttggtcta
     5521 gaatggattt ttcccggagc cggaagccag gaggaaacta caccacacta aaacattgtc
     5581 tacagctcca gatgtttctc attttaaaca actttccact gacaacgaaa gtaaagtaaa
     5641 gtattggatt tttttaaagg gaacatgtga atgaatacac aggacttatt atatcagagt
     5701 gagtaatcgg ttggttggtt gattgattga ttgattgata cattcagctt cctgctgcta
     5761 gcaatgccac gatttagatt taatgatgct tcagtggaaa tcaatcagaa ggtattctga
     5821 ccttgtgaac atcagaaggt attttttaac tcccaagcag tagcaggacg atgatagggc
     5881 tggagggcta tggattccca gcccatccct gtgaaggagt aggccactct ttaagtgaag
     5941 gattggatga ttgttcataa tacataaagt tctctgtaat tacaactaaa ttattatgcc
     6001 ctcttctcac agtcaaaagg aactgggtgg tttggttttt gttgcttttt tagatttatt
     6061 gtcccatgtg ggatgagttt ttaaatgcca caagacataa tttaaaataa ataaactttg
     6121 ggaaaaggtg taagacagta gccccatcac atttgtgata ctgacaggta tcaacccaga
     6181 agcccatgaa ctgtgtttcc atcctttgca tttctctgcg agtagttcca cacaggtttg
     6241 taagtaagta agaaagaagg caaattgatt caaatgttac aaaaaaaccc ttcttggtgg
     6301 attagacagg ttaaatatat aaacaaacaa acaaaaattg ctcaaaaaag aggagaaaag
     6361 ctcaagagga aaagctaagg actggtagga aaaagcttta ctctttcatg ccattttatt
     6421 tctttttgat ttttaaatca ttcattcaat agataccacc gtgtgaccta taattttgca
     6481 aatctgttac ctctgacatc aagtgtaatt agcttttgga gagtgggctg acatcaagtg
     6541 taattagctt ttggagagtg ggttttgtcc attattaata attaattaat taacatcaaa
     6601 cacggcttct catgctattt ctacctcact ttggttttgg ggtgttcctg ataattgtgc
     6661 acacctgagt tcacagcttc accacttgtc cattgcgtta ttttcttttt cctttataat
     6721 tctttctttt tccttcataa ttttcaaaag aaaacccaaa gctctaaggt aacaaattac
     6781 caaattacat gaagatttgg tttttgtctt gcattttttt cctttatgtg acgctggacc
     6841 ttttctttac ccaaggattt ttaaaactca gatttaaaac aaggggttac tttacatcct
     6901 actaagaagt ttaagtaagt aagtttcatt ctaaaatcag aggtaaatag agtgcataaa
     6961 taattttgtt ttaatctttt tgtttttctt ttagacacat tagctctgga gtgagtctgt
     7021 cataatattt gaacaaaaat tgagagcttt attgctgcat tttaagcata attaatttgg
     7081 acattatttc gtgttgtgtt ctttataacc accgagtatt aaactgtaaa tcataatgta
     7141 actgaagcat aaacatcaca tggcatgttt tgtcattgtt ttcaggtact gagttcttac
     7201 ttgagtatca taatatattg tgttttaaca ccaacactgt aacatttacg aattattttt
     7261 ttaaacttca gttttactgc attttcacaa catatcagac ttcaccaaat atatgcctta
     7321 ctattgtatt atagtactgc tttactgtgt atctcaataa agcacgcagt tatgttac


LOCUS       Dp140ab      7339 bp    mRNA            PRI       20-JAN-1998
DEFINITION  Dp140ab Human dystrophin cDNA isoform Dp140ab (cerebellum).
ACCESSION   Dp140ab
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 99)
  AUTHORS   Lidov,H.G., Selig,S. and Kunkel,L.M.
  TITLE     Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
  JOURNAL   Hum. Mol. Genet. 4 (3), 329-335 (1995)
  MEDLINE   95315927
REFERENCE   2  (bases 1 to 99)
  AUTHORS   Lidov,H.G.W. and Kunkel,L.M.
  TITLE     Dp140: alternatively spliced isoforms in brain and kidney
  JOURNAL   Genomics 45, 132-139 (1997)
REFERENCE   3  (bases 1 to 7339)
  AUTHORS   den Dunnen,J.T.
  TITLE     Transcripts of the human dystrophin gene
  JOURNAL   Unpublished
  REMARK    More details regarding the nomenclature used, the annotations (e.g.
            proper references), RFLP's and mutations found in DMD, BMD and
            XLDCM patients, can be obtained from http://www.dmd.nl/
 
FEATURES             Location/Qualifiers
     source          1..7339
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     5'UTR           <1..1041
     misc_feature    <1042..1071
                     /note="Region: hinge region 3"
     CDS             1042..4734
                     /codon_start=1
                     /product="dystrophin Dp140ab"
                     /translation="MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLE
                     DINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWD
                     EVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKI
                     TETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVS
                     EREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMK
                     QWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSL
                     NIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFK
                     RELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEE
                     VNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLI
                     DSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKL
                     LQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWD
                     HPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQND
                     QPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFK
                     TGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSN
                     IEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNIC
                     KECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAK
                     VLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPASSPQLSHDDTHSRIEHYASRLA
                     EMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEER
                     GELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAE
                     AKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQ
                     RSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGHNVGS
                     LFHMADDLGRAMESLVSVMTDEEGAE"
     misc_feature    <1042..2781
                     /note="Region: central rod domain"
     misc_feature    1072..1392
                     /note="Region: repeat region 20"
     misc_feature    1393..1719
                     /note="Region: repeat region 21"
     misc_feature    1720..2067
                     /note="Region: repeat region 22"
     misc_feature    2068..2454
                     /note="Region: repeat region 23"
     misc_feature    2455..2781
                     /note="Region: repeat region 24"
     misc_feature    2701..2997
                     /note="Region: hinge region 4"
     misc_feature    2827..2937
                     /note="Region: WW-domain"
     misc_feature    2899..3885
                     /note="dystroglycan binding site"
     misc_feature    2959..3561
                     /note="Region: Cysteine-rich domain"
     misc_feature    3049..3132
                     /note="Region: EF-hand 1"
     misc_feature    3193..3279
                     /note="Region: EF-hand 2"
     misc_feature    3559..4677
                     /note="Region: Carboxy-terminal region"
     misc_feature    3580..3723
                     /note="Region: ZZ-domain"
     misc_feature    3952..4104
                     /note="alpha1-syntrophin binding site"
     misc_feature    4105..4227
                     /note="beta1-syntrophin binding site"
     misc_feature    4105..4227
                     /note="Region: beta1-syntrophin binding site"
     misc_feature    4294..4401
                     /note="Region: (Leu)6-heptad repeat"
     3'UTR           4735..7339
     polyA_signal    7317..7322
     polyA_site      7339
BASE COUNT     2291 a   1521 c   1591 g   1936 t
ORIGIN
        1 acactagcaa tggcaaagct ttgtgcggag gcattgctgg ctgctctgaa ctaaaagcat
       61 ccgtggggac cgaaagaggt ttttgcacac cttattaagg aactccagga tggcattggg
      121 cagcggcaaa ctgttgtcag aacattgaat gcaactgggg aagaaataat tcagcaatcc
      181 tcaaaaacag atgccagtat tctacaggaa aaattgggaa gcctgaatct gcggtggcag
      241 gaggtctgca aacagctgtc agacagaaaa aagaggctag aagaacaaaa gaatatcttg
      301 tcagaatttc aaagagattt aaatgaattt gttttatggt tggaggaagc agataacatt
      361 gctagtatcc cacttgaacc tggaaaagag cagcaactaa aagaaaagct tgagcaagtc
      421 aagttactgg tggaagagtt gcccctgcgc cagggaattc tcaaacaatt aaatgaaact
      481 ggaggacccg tgcttgtaag tgctcccata agcccagaag agcaagataa acttgaaaat
      541 aagctcaagc agacaaatct ccagtggata aaggtttcca gagctttacc tgagaaacaa
      601 ggagaaattg aagctcaaat aaaagacctt gggcagcttg aaaaaaagct tgaagacctt
      661 gaagagcagt taaatcatct gctgctgtgg ttatctccta ttaggaatca gttggaaatt
      721 tataaccaac caaaccaaga aggaccattt gacgttcagg aaactgaaat agcagttcaa
      781 gctaaacaac cggatgtgga agagattttg tctaaagggc agcatttgta caaggaaaaa
      841 ccagccactc agccagtgaa gaggaagtta gaagatctga gctctgagtg gaaggcggta
      901 aaccgtttac ttcaagagct gagggcaaag cagcctgacc tagctcctgg actgaccact
      961 attggagcct ctcctactca gactgttact ctggtgacac aacctgtggt tactaaggaa
     1021 actgccatct ccaaactaga aatgccatct tccttgatgt tggaggtacc tgctctggca
     1081 gatttcaacc gggcttggac agaacttacc gactggcttt ctctgcttga tcaagttata
     1141 aaatcacaga gggtgatggt gggtgacctt gaggatatca acgagatgat catcaagcag
     1201 aaggcaacaa tgcaggattt ggaacagagg cgtccccagt tggaagaact cattaccgct
     1261 gcccaaaatt tgaaaaacaa gaccagcaat caagaggcta gaacaatcat tacggatcga
     1321 attgaaagaa ttcagaatca gtgggatgaa gtacaagaac accttcagaa ccggaggcaa
     1381 cagttgaatg aaatgttaaa ggattcaaca caatggctgg aagctaagga agaagctgag
     1441 caggtcttag gacaggccag agccaagctt gagtcatgga aggagggtcc ctatacagta
     1501 gatgcaatcc aaaagaaaat cacagaaacc aagcagttgg ccaaagacct ccgccagtgg
     1561 cagacaaatg tagatgtggc aaatgacttg gccctgaaac ttctccggga ttattctgca
     1621 gatgatacca gaaaagtcca catgataaca gagaatatca atgcctcttg gagaagcatt
     1681 cataaaaggg tgagtgagcg agaggctgct ttggaagaaa ctcatagatt actgcaacag
     1741 ttccccctgg acctggaaaa gtttcttgcc tggcttacag aagctgaaac aactgccaat
     1801 gtcctacagg atgctacccg taaggaaagg ctcctagaag actccaaggg agtaaaagag
     1861 ctgatgaaac aatggcaaga cctccaaggt gaaattgaag ctcacacaga tgtttatcac
     1921 aacctggatg aaaacagcca aaaaatcctg agatccctgg aaggttccga tgatgcagtc
     1981 ctgttacaaa gacgtttgga taacatgaac ttcaagtgga gtgaacttcg gaaaaagtct
     2041 ctcaacatta ggtcccattt ggaagccagt tctgaccagt ggaagcgtct gcacctttct
     2101 ctgcaggaac ttctggtgtg gctacagctg aaagatgatg aattaagccg gcaggcacct
     2161 attggaggcg actttccagc agttcagaag cagaacgatg tacatagggc cttcaagagg
     2221 gaattgaaaa ctaaagaacc tgtaatcatg agtactcttg agactgtacg aatatttctg
     2281 acagagcagc ctttggaagg actagagaaa ctctaccagg agcccagaga gctgcctcct
     2341 gaggagagag cccagaatgt cactcggctt ctacgaaagc aggctgagga ggtcaatact
     2401 gagtgggaaa aattgaacct gcactccgct gactggcaga gaaaaataga tgagaccctt
     2461 gaaagactcc aggaacttca agaggccacg gatgagctgg acctcaagct gcgccaagct
     2521 gaggtgatca agggatcctg gcagcccgtg ggcgatctcc tcattgactc tctccaagat
     2581 cacctcgaga aagtcaaggc acttcgagga gaaattgcgc ctctgaaaga gaacgtgagc
     2641 cacgtcaatg accttgctcg ccagcttacc actttgggca ttcagctctc accgtataac
     2701 ctcagcactc tggaagacct gaacaccaga tggaagcttc tgcaggtggc cgtcgaggac
     2761 cgagtcaggc agctgcatga agcccacagg gactttggtc cagcatctca gcactttctt
     2821 tccacgtctg tccagggtcc ctgggagaga gccatctcgc caaacaaagt gccctactat
     2881 atcaaccacg agactcaaac aacttgctgg gaccatccca aaatgacaga gctctaccag
     2941 tctttagctg acctgaataa tgtcagattc tcagcttata ggactgccat gaaactccga
     3001 agactgcaga aggccctttg cttggatctc ttgagcctgt cagctgcatg tgatgccttg
     3061 gaccagcaca acctcaagca aaatgaccag cccatggata tcctgcagat tattaattgt
     3121 ttgaccacta tttatgaccg cctggagcaa gagcacaaca atttggtcaa cgtccctctc
     3181 tgcgtggata tgtgtctgaa ctggctgctg aatgtttatg atacgggacg aacagggagg
     3241 atccgtgtcc tgtcttttaa aactggcatc atttccctgt gtaaagcaca tttggaagac
     3301 aagtacagat accttttcaa gcaagtggca agttcaacag gattttgtga ccagcgcagg
     3361 ctgggcctcc ttctgcatga ttctatccaa attccaagac agttgggtga agttgcatcc
     3421 tttgggggca gtaacattga gccaagtgtc cggagctgct tccaatttgc taataataag
     3481 ccagagatcg aagcggccct cttcctagac tggatgagac tggaacccca gtccatggtg
     3541 tggctgcccg tcctgcacag agtggctgct gcagaaactg ccaagcatca ggccaaatgt
     3601 aacatctgca aagagtgtcc aatcattgga ttcaggtaca ggagtctaaa gcactttaat
     3661 tatgacatct gccaaagctg ctttttttct ggtcgagttg caaaaggcca taaaatgcac
     3721 tatcccatgg tggaatattg cactccgact acatcaggag aagatgttcg agactttgcc
     3781 aaggtactaa aaaacaaatt tcgaaccaaa aggtattttg cgaagcatcc ccgaatgggc
     3841 tacctgccag tgcagactgt cttagagggg gacaacatgg aaacgcctgc ctcgtcccct
     3901 cagctttcac acgatgatac tcattcacgc attgaacatt atgctagcag gctagcagaa
     3961 atggaaaaca gcaatggatc ttatctaaat gatagcatct ctcctaatga gagcatagat
     4021 gatgaacatt tgttaatcca gcattactgc caaagtttga accaggactc ccccctgagc
     4081 cagcctcgta gtcctgccca gatcttgatt tccttagaga gtgaggaaag aggggagcta
     4141 gagagaatcc tagcagatct tgaggaagaa aacaggaatc tgcaagcaga atatgaccgt
     4201 ctaaagcagc agcacgaaca taaaggcctg tccccactgc cgtcccctcc tgaaatgatg
     4261 cccacctctc cccagagtcc ccgggatgct gagctcattg ctgaggccaa gctactgcgt
     4321 caacacaaag gccgcctgga agccaggatg caaatcctgg aagaccacaa taaacagctg
     4381 gagtcacagt tacacaggct aaggcagctg ctggagcaac cccaggcaga ggccaaagtg
     4441 aatggcacaa cggtgtcctc tccttctacc tctctacaga ggtccgacag cagtcagcct
     4501 atgctgctcc gagtggttgg cagtcaaact tcggactcca tgggtgagga agatcttctc
     4561 agtcctcccc aggacacaag cacagggtta gaggaggtga tggagcaact caacaactcc
     4621 ttccctagtt caagaggaca caatgtagga agtcttttcc acatggcaga tgatttgggc
     4681 agagcgatgg agtccttagt atcagtcatg acagatgaag aaggagcaga ataaatgttt
     4741 tacaactcct gattcccgca tggtttttat aatattcata caacaaagag gattagacag
     4801 taagagttta caagaaataa atctatattt ttgtgaaggg tagtggtatt atactgtaga
     4861 tttcagtagt ttctaagtct gttattgttt tgttaacaat ggcaggtttt acacgtctat
     4921 gcaattgtac aaaaaagtta taagaaaact acatgtaaaa tcttgatagc taaataactt
     4981 gccatttctt tatatggaac gcattttggg ttgtttaaaa atttataaca gttataaaga
     5041 aagattgtaa actaaagtgt gctttataaa aaaaagttgt ttataaaaac ccctaaaaac
     5101 aaaacaaaca cacacacaca cacatacaca cacacacaca aaactttgag gcagcgcatt
     5161 gttttgcatc cttttggcgt gatatccata tgaaattcat ggctttttct ttttttgcat
     5221 attaaagata agacttcctc taccaccaca ccaaatgact actacacact gctcatttga
     5281 gaactgtcag ctgagtgggg caggcttgag ttttcatttc atatatctat atgtctataa
     5341 gtatataaat actatagtta tatagataaa gagatacgaa tttctataga ctgacttttt
     5401 ccatttttta aatgttcatg tcacatccta atagaaagaa attacttcta gtcagtcatc
     5461 caggcttacc tgcttggtct agaatggatt tttcccggag ccggaagcca ggaggaaact
     5521 acaccacact aaaacattgt ctacagctcc agatgtttct cattttaaac aactttccac
     5581 tgacaacgaa agtaaagtaa agtattggat ttttttaaag ggaacatgtg aatgaataca
     5641 caggacttat tatatcagag tgagtaatcg gttggttggt tgattgattg attgattgat
     5701 acattcagct tcctgctgct agcaatgcca cgatttagat ttaatgatgc ttcagtggaa
     5761 atcaatcaga aggtattctg accttgtgaa catcagaagg tattttttaa ctcccaagca
     5821 gtagcaggac gatgataggg ctggagggct atggattccc agcccatccc tgtgaaggag
     5881 taggccactc tttaagtgaa ggattggatg attgttcata atacataaag ttctctgtaa
     5941 ttacaactaa attattatgc cctcttctca cagtcaaaag gaactgggtg gtttggtttt
     6001 tgttgctttt ttagatttat tgtcccatgt gggatgagtt tttaaatgcc acaagacata
     6061 atttaaaata aataaacttt gggaaaaggt gtaagacagt agccccatca catttgtgat
     6121 actgacaggt atcaacccag aagcccatga actgtgtttc catcctttgc atttctctgc
     6181 gagtagttcc acacaggttt gtaagtaagt aagaaagaag gcaaattgat tcaaatgtta
     6241 caaaaaaacc cttcttggtg gattagacag gttaaatata taaacaaaca aacaaaaatt
     6301 gctcaaaaaa gaggagaaaa gctcaagagg aaaagctaag gactggtagg aaaaagcttt
     6361 actctttcat gccattttat ttctttttga tttttaaatc attcattcaa tagataccac
     6421 cgtgtgacct ataattttgc aaatctgtta cctctgacat caagtgtaat tagcttttgg
     6481 agagtgggct gacatcaagt gtaattagct tttggagagt gggttttgtc cattattaat
     6541 aattaattaa ttaacatcaa acacggcttc tcatgctatt tctacctcac tttggttttg
     6601 gggtgttcct gataattgtg cacacctgag ttcacagctt caccacttgt ccattgcgtt
     6661 attttctttt tcctttataa ttctttcttt ttccttcata attttcaaaa gaaaacccaa
     6721 agctctaagg taacaaatta ccaaattaca tgaagatttg gtttttgtct tgcatttttt
     6781 tcctttatgt gacgctggac cttttcttta cccaaggatt tttaaaactc agatttaaaa
     6841 caaggggtta ctttacatcc tactaagaag tttaagtaag taagtttcat tctaaaatca
     6901 gaggtaaata gagtgcataa ataattttgt tttaatcttt ttgtttttct tttagacaca
     6961 ttagctctgg agtgagtctg tcataatatt tgaacaaaaa ttgagagctt tattgctgca
     7021 ttttaagcat aattaatttg gacattattt cgtgttgtgt tctttataac caccgagtat
     7081 taaactgtaa atcataatgt aactgaagca taaacatcac atggcatgtt ttgtcattgt
     7141 tttcaggtac tgagttctta cttgagtatc ataatatatt gtgttttaac accaacactg
     7201 taacatttac gaattatttt tttaaacttc agttttactg cattttcaca acatatcaga
     7261 cttcaccaaa tatatgcctt actattgtat tatagtactg ctttactgtg tatctcaata
     7321 aagcacgcag ttatgttac


LOCUS       Dp140bc      7048 bp    mRNA            PRI       20-JAN-1998
DEFINITION  Dp140bc Human dystrophin cDNA isoform Dp140bc (cerebellum and
            kidney).
ACCESSION   Dp140bc
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
            Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 99)
  AUTHORS   Lidov,H.G., Selig,S. and Kunkel,L.M.
  TITLE     Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
  JOURNAL   Hum. Mol. Genet. 4 (3), 329-335 (1995)
  MEDLINE   95315927
REFERENCE   2  (bases 1 to 99)
  AUTHORS   Lidov,H.G.W. and Kunkel,L.M.
  TITLE     Dp140: alternatively spliced isoforms in brain and kidney
  JOURNAL   Genomics 45, 132-139 (1997)
REFERENCE   3  (bases 1 to 7048)
  AUTHORS   den Dunnen,J.T.
  TITLE     Transcripts of the human dystrophin gene
  JOURNAL   Unpublished
  REMARK    More details regarding the nomenclature used, the annotations (e.g.
            proper references), RFLP's and mutations found in DMD, BMD and
            XLDCM patients, can be obtained from http://www.dmd.nl/
 
FEATURES             Location/Qualifiers
     source          1..7048
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     5'UTR           <1..1041
     misc_feature    <1042..2781
                     /note="Region: central rod domain"
     misc_feature    <1042..1071
                     /note="Region: hinge region 3"
     CDS             1042..4443
                     /codon_start=1
                     /product="dystrophin Dp140bc"
                     /translation="MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLE
                     DINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWD
                     EVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKI
                     TETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVS
                     EREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMK
                     QWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSL
                     NIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFK
                     RELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEE
                     VNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLI
                     DSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKL
                     LQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWD
                     HPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQND
                     QPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFK
                     TGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSN
                     IEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNIC
                     KECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAK
                     VLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETNLQAEYDRLKQQHEHKGLSPLPSP
                     PEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQP
                     QAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEE
                     VMEQLNNSFPSSRGHNVGSLFHMADDLGRAMESLVSVMTDEEGAE"
     misc_feature    1072..1392
                     /note="Region: repeat region 20"
     misc_feature    1393..1719
                     /note="Region: repeat region 21"
     misc_feature    1720..2067
                     /note="Region: repeat region 22"
     misc_feature    2068..2454
                     /note="Region: repeat region 23"
     misc_feature    2455..2781
                     /note="Region: repeat region 24"
     misc_feature    2701..2997
                     /note="Region: hinge region 4"
     misc_feature    2827..2937
                     /note="Region: WW-domain"
     misc_feature    2899..3885
                     /note="dystroglycan binding site"
     misc_feature    2959..3561
                     /note="Region: Cysteine-rich domain"
     misc_feature    3049..3132
                     /note="Region: EF-hand 1"
     misc_feature    3193..3279
                     /note="Region: EF-hand 2"
     misc_feature    3559..4386
                     /note="Region: Carboxy-terminal region"
     misc_feature    3580..3723
                     /note="Region: ZZ-domain"
     misc_feature    3886..3936
                     /note="beta1-syntrophin binding site"
     misc_feature    3886..3936
                     /note="Region: beta1-syntrophin binding site"
     misc_feature    4003..4110
                     /note="Region: (Leu)6-heptad repeat"
     3'UTR           4444..7048
     polyA_signal    7026..7031
     polyA_site      7048
BASE COUNT     2202 a   1452 c   1527 g   1867 t
ORIGIN
        1 acactagcaa tggcaaagct ttgtgcggag gcattgctgg ctgctctgaa ctaaaagcat
       61 ccgtggggac cgaaagaggt ttttgcacac cttattaagg aactccagga tggcattggg
      121 cagcggcaaa ctgttgtcag aacattgaat gcaactgggg aagaaataat tcagcaatcc
      181 tcaaaaacag atgccagtat tctacaggaa aaattgggaa gcctgaatct gcggtggcag
      241 gaggtctgca aacagctgtc agacagaaaa aagaggctag aagaacaaaa gaatatcttg
      301 tcagaatttc aaagagattt aaatgaattt gttttatggt tggaggaagc agataacatt
      361 gctagtatcc cacttgaacc tggaaaagag cagcaactaa aagaaaagct tgagcaagtc
      421 aagttactgg tggaagagtt gcccctgcgc cagggaattc tcaaacaatt aaatgaaact
      481 ggaggacccg tgcttgtaag tgctcccata agcccagaag agcaagataa acttgaaaat
      541 aagctcaagc agacaaatct ccagtggata aaggtttcca gagctttacc tgagaaacaa
      601 ggagaaattg aagctcaaat aaaagacctt gggcagcttg aaaaaaagct tgaagacctt
      661 gaagagcagt taaatcatct gctgctgtgg ttatctccta ttaggaatca gttggaaatt
      721 tataaccaac caaaccaaga aggaccattt gacgttcagg aaactgaaat agcagttcaa
      781 gctaaacaac cggatgtgga agagattttg tctaaagggc agcatttgta caaggaaaaa
      841 ccagccactc agccagtgaa gaggaagtta gaagatctga gctctgagtg gaaggcggta
      901 aaccgtttac ttcaagagct gagggcaaag cagcctgacc tagctcctgg actgaccact
      961 attggagcct ctcctactca gactgttact ctggtgacac aacctgtggt tactaaggaa
     1021 actgccatct ccaaactaga aatgccatct tccttgatgt tggaggtacc tgctctggca
     1081 gatttcaacc gggcttggac agaacttacc gactggcttt ctctgcttga tcaagttata
     1141 aaatcacaga gggtgatggt gggtgacctt gaggatatca acgagatgat catcaagcag
     1201 aaggcaacaa tgcaggattt ggaacagagg cgtccccagt tggaagaact cattaccgct
     1261 gcccaaaatt tgaaaaacaa gaccagcaat caagaggcta gaacaatcat tacggatcga
     1321 attgaaagaa ttcagaatca gtgggatgaa gtacaagaac accttcagaa ccggaggcaa
     1381 cagttgaatg aaatgttaaa ggattcaaca caatggctgg aagctaagga agaagctgag
     1441 caggtcttag gacaggccag agccaagctt gagtcatgga aggagggtcc ctatacagta
     1501 gatgcaatcc aaaagaaaat cacagaaacc aagcagttgg ccaaagacct ccgccagtgg
     1561 cagacaaatg tagatgtggc aaatgacttg gccctgaaac ttctccggga ttattctgca
     1621 gatgatacca gaaaagtcca catgataaca gagaatatca atgcctcttg gagaagcatt
     1681 cataaaaggg tgagtgagcg agaggctgct ttggaagaaa ctcatagatt actgcaacag
     1741 ttccccctgg acctggaaaa gtttcttgcc tggcttacag aagctgaaac aactgccaat
     1801 gtcctacagg atgctacccg taaggaaagg ctcctagaag actccaaggg agtaaaagag
     1861 ctgatgaaac aatggcaaga cctccaaggt gaaattgaag ctcacacaga tgtttatcac
     1921 aacctggatg aaaacagcca aaaaatcctg agatccctgg aaggttccga tgatgcagtc
     1981 ctgttacaaa gacgtttgga taacatgaac ttcaagtgga gtgaacttcg gaaaaagtct
     2041 ctcaacatta ggtcccattt ggaagccagt tctgaccagt ggaagcgtct gcacctttct
     2101 ctgcaggaac ttctggtgtg gctacagctg aaagatgatg aattaagccg gcaggcacct
     2161 attggaggcg actttccagc agttcagaag cagaacgatg tacatagggc cttcaagagg
     2221 gaattgaaaa ctaaagaacc tgtaatcatg agtactcttg agactgtacg aatatttctg
     2281 acagagcagc ctttggaagg actagagaaa ctctaccagg agcccagaga gctgcctcct
     2341 gaggagagag cccagaatgt cactcggctt ctacgaaagc aggctgagga ggtcaatact
     2401 gagtgggaaa aattgaacct gcactccgct gactggcaga gaaaaataga tgagaccctt
     2461 gaaagactcc aggaacttca agaggccacg gatgagctgg acctcaagct gcgccaagct
     2521 gaggtgatca agggatcctg gcagcccgtg ggcgatctcc tcattgactc tctccaagat
     2581 cacctcgaga aagtcaaggc acttcgagga gaaattgcgc ctctgaaaga gaacgtgagc
     2641 cacgtcaatg accttgctcg ccagcttacc actttgggca ttcagctctc accgtataac
     2701 ctcagcactc tggaagacct gaacaccaga tggaagcttc tgcaggtggc cgtcgaggac
     2761 cgagtcaggc agctgcatga agcccacagg gactttggtc cagcatctca gcactttctt
     2821 tccacgtctg tccagggtcc ctgggagaga gccatctcgc caaacaaagt gccctactat
     2881 atcaaccacg agactcaaac aacttgctgg gaccatccca aaatgacaga gctctaccag
     2941 tctttagctg acctgaataa tgtcagattc tcagcttata ggactgccat gaaactccga
     3001 agactgcaga aggccctttg cttggatctc ttgagcctgt cagctgcatg tgatgccttg
     3061 gaccagcaca acctcaagca aaatgaccag cccatggata tcctgcagat tattaattgt
     3121 ttgaccacta tttatgaccg cctggagcaa gagcacaaca atttggtcaa cgtccctctc
     3181 tgcgtggata tgtgtctgaa ctggctgctg aatgtttatg atacgggacg aacagggagg
     3241 atccgtgtcc tgtcttttaa aactggcatc atttccctgt gtaaagcaca tttggaagac
     3301 aagtacagat accttttcaa gcaagtggca agttcaacag gattttgtga ccagcgcagg
     3361 ctgggcctcc ttctgcatga ttctatccaa attccaagac agttgggtga agttgcatcc
     3421 tttgggggca gtaacattga gccaagtgtc cggagctgct tccaatttgc taataataag
     3481 ccagagatcg aagcggccct cttcctagac tggatgagac tggaacccca gtccatggtg
     3541 tggctgcccg tcctgcacag agtggctgct gcagaaactg ccaagcatca ggccaaatgt
     3601 aacatctgca aagagtgtcc aatcattgga ttcaggtaca ggagtctaaa gcactttaat
     3661 tatgacatct gccaaagctg ctttttttct ggtcgagttg caaaaggcca taaaatgcac
     3721 tatcccatgg tggaatattg cactccgact acatcaggag aagatgttcg agactttgcc
     3781 aaggtactaa aaaacaaatt tcgaaccaaa aggtattttg cgaagcatcc ccgaatgggc
     3841 tacctgccag tgcagactgt cttagagggg gacaacatgg aaacgaatct gcaagcagaa
     3901 tatgaccgtc taaagcagca gcacgaacat aaaggcctgt ccccactgcc gtcccctcct
     3961 gaaatgatgc ccacctctcc ccagagtccc cgggatgctg agctcattgc tgaggccaag
     4021 ctactgcgtc aacacaaagg ccgcctggaa gccaggatgc aaatcctgga agaccacaat
     4081 aaacagctgg agtcacagtt acacaggcta aggcagctgc tggagcaacc ccaggcagag
     4141 gccaaagtga atggcacaac ggtgtcctct ccttctacct ctctacagag gtccgacagc
     4201 agtcagccta tgctgctccg agtggttggc agtcaaactt cggactccat gggtgaggaa
     4261 gatcttctca gtcctcccca ggacacaagc acagggttag aggaggtgat ggagcaactc
     4321 aacaactcct tccctagttc aagaggacac aatgtaggaa gtcttttcca catggcagat
     4381 gatttgggca gagcgatgga gtccttagta tcagtcatga cagatgaaga aggagcagaa
     4441 taaatgtttt acaactcctg attcccgcat ggtttttata atattcatac aacaaagagg
     4501 attagacagt aagagtttac aagaaataaa tctatatttt tgtgaagggt agtggtatta
     4561 tactgtagat ttcagtagtt tctaagtctg ttattgtttt gttaacaatg gcaggtttta
     4621 cacgtctatg caattgtaca aaaaagttat aagaaaacta catgtaaaat cttgatagct
     4681 aaataacttg ccatttcttt atatggaacg cattttgggt tgtttaaaaa tttataacag
     4741 ttataaagaa agattgtaaa ctaaagtgtg ctttataaaa aaaagttgtt tataaaaacc
     4801 cctaaaaaca aaacaaacac acacacacac acatacacac acacacacaa aactttgagg
     4861 cagcgcattg ttttgcatcc ttttggcgtg atatccatat gaaattcatg gctttttctt
     4921 tttttgcata ttaaagataa gacttcctct accaccacac caaatgacta ctacacactg
     4981 ctcatttgag aactgtcagc tgagtggggc aggcttgagt tttcatttca tatatctata
     5041 tgtctataag tatataaata ctatagttat atagataaag agatacgaat ttctatagac
     5101 tgactttttc cattttttaa atgttcatgt cacatcctaa tagaaagaaa ttacttctag
     5161 tcagtcatcc aggcttacct gcttggtcta gaatggattt ttcccggagc cggaagccag
     5221 gaggaaacta caccacacta aaacattgtc tacagctcca gatgtttctc attttaaaca
     5281 actttccact gacaacgaaa gtaaagtaaa gtattggatt tttttaaagg gaacatgtga
     5341 atgaatacac aggacttatt atatcagagt gagtaatcgg ttggttggtt gattgattga
     5401 ttgattgata cattcagctt cctgctgcta gcaatgccac gatttagatt taatgatgct
     5461 tcagtggaaa tcaatcagaa ggtattctga ccttgtgaac atcagaaggt attttttaac
     5521 tcccaagcag tagcaggacg atgatagggc tggagggcta tggattccca gcccatccct
     5581 gtgaaggagt aggccactct ttaagtgaag gattggatga ttgttcataa tacataaagt
     5641 tctctgtaat tacaactaaa ttattatgcc ctcttctcac agtcaaaagg aactgggtgg
     5701 tttggttttt gttgcttttt tagatttatt gtcccatgtg ggatgagttt ttaaatgcca
     5761 caagacataa tttaaaataa ataaactttg ggaaaaggtg taagacagta gccccatcac
     5821 atttgtgata ctgacaggta tcaacccaga agcccatgaa ctgtgtttcc atcctttgca
     5881 tttctctgcg agtagttcca cacaggtttg taagtaagta agaaagaagg caaattgatt
     5941 caaatgttac aaaaaaaccc ttcttggtgg attagacagg ttaaatatat aaacaaacaa
     6001 acaaaaattg ctcaaaaaag aggagaaaag ctcaagagga aaagctaagg actggtagga
     6061 aaaagcttta ctctttcatg ccattttatt tctttttgat ttttaaatca ttcattcaat
     6121 agataccacc gtgtgaccta taattttgca aatctgttac ctctgacatc aagtgtaatt
     6181 agcttttgga gagtgggctg acatcaagtg taattagctt ttggagagtg ggttttgtcc
     6241 attattaata attaattaat taacatcaaa cacggcttct catgctattt ctacctcact
     6301 ttggttttgg ggtgttcctg ataattgtgc acacctgagt tcacagcttc accacttgtc
     6361 cattgcgtta ttttcttttt cctttataat tctttctttt tccttcataa ttttcaaaag
     6421 aaaacccaaa gctctaaggt aacaaattac caaattacat gaagatttgg tttttgtctt
     6481 gcattttttt cctttatgtg acgctggacc ttttctttac ccaaggattt ttaaaactca
     6541 gatttaaaac aaggggttac tttacatcct actaagaagt ttaagtaagt aagtttcatt
     6601 ctaaaatcag aggtaaatag agtgcataaa taattttgtt ttaatctttt tgtttttctt
     6661 ttagacacat tagctctgga gtgagtctgt cataatattt gaacaaaaat tgagagcttt
     6721 attgctgcat tttaagcata attaatttgg acattatttc gtgttgtgtt ctttataacc
     6781 accgagtatt aaactgtaaa tcataatgta actgaagcat aaacatcaca tggcatgttt
     6841 tgtcattgtt ttcaggtact gagttcttac ttgagtatca taatatattg tgttttaaca
     6901 ccaacactgt aacatttacg aattattttt ttaaacttca gttttactgc attttcacaa
     6961 catatcagac ttcaccaaat atatgcctta ctattgtatt atagtactgc tttactgtgt
     7021 atctcaataa agcacgcagt tatgttac


| Top of page | Dystrophin isoforms | Dystrophin sequences |
| LMDp home page |