(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JOURNAL Unpublished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
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