(last modified May 7, 1999)
Submitted to GenBank
LOCUS D3204801 400 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp427l promoter/exon 1 (L-dystrophin - lymphocyte).
ACCESSION D32048
KEYWORDS .
SEGMENT 1 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 400)
AUTHORS Nishio,H., Takeshima,Y., Narita,N., Yanagawa,H., Suzuki,Y.,
Ishikawa,Y., Ishikawa,Y., Minami,R., Nakamura,H. and Matsuo,M.
TITLE Identification of a novel first exon in the human dystrophin gene
and of a new promoter located more than 500 kb upstream of the
nearest known promoter
JOURNAL J. Clin. Invest. (1994)
REFERENCE 2 (bases 1 to 400)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
FEATURES Location/Qualifiers
source 1..400
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
promoter 38..47
/gene="DMD"
/note="MEF-2 motif"
promoter 95..102
/gene="DMD"
/note="octamer motif"
TATA_signal 131..137
/gene="DMD"
repeat_unit 160..263
/gene="DMD"
/rpt_family="MER17"
exon 191..236
/gene="DMD"
/standard_name="dystrophin Dp427l mRNA"
/number=1
intron 237..>400
/gene="DMD"
/standard_name="dystrophin Dp427l transcript"
/number=1
BASE COUNT 140 a 65 c 57 g 138 t
ORIGIN
1 tattacaaaa gagtcaagaa attaaaaaag caaaagttta taaataaaaa gttacagtaa
61 gctaaattta tttcattatt gaaaaaacaa aatgttttgc atatttagta tagcctaagt
121 gtacagtgtt cataaaatct ataggagtgt acaaaaatgt tctaggcctt cctatccatt
181 caccactcac tcactgacac atagagtaac ttctagttct ccaagctcta ctcatggtaa
241 gtgccttata caggtgtacc atttttaatc ttttatactt tatttttatt gtctattttc
301 tatggttaac tatggttaga taccattgtg ttagaatctc tgacagtatt cagtacaata
361 aaaacgataa ggtttgtagc ctagcagcca taggctatac
//
LOCUS D3204802 1794 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp427c promoter/exon 1 (C-dystrophin/B-dystrophin -
brain).
ACCESSION JdD01c
KEYWORDS .
SEGMENT 2 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1794)
AUTHORS Hugnot,J.-P., Gilgenkrantz,K., Jeanpierre,M., Chelly,J.,
Kaplan,J.C. and Kahn,A.
TITLE Striking conservation of the brain-specific region of the
dystrophin gene
JOURNAL Mamm. Genome 4, 393-396 (1993)
MEDLINE 93364119
REMARK full staff_review GenBank L01538 (error; bases 2252-2537 present
twice)
REFERENCE 2 (bases 1 to 1794)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
COMMENT constructed consensus sequence of GenBank L01538 and M59228.
FEATURES Location/Qualifiers
source 1..1794
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
promoter <1..1463
/gene="DMD"
/note="dystrophin Dp427c transcript"
exon 1464..1792
/partial
/gene="DMD"
/note="dystrophin Dp427c transcript"
/number=1
intron 1793..>1794
/gene="DMD"
/number=1
BASE COUNT 640 a 280 c 329 g 545 t
ORIGIN
1 tttttacaaa aaattaattt tcacaagcct caagacagac ttatgaatag atgaaacaga
61 atacggaaaa tatctgaaac aggaaggagt ccagcatttt agaagaaaaa atagaagtcc
121 attgtggctg gaataaagta taaagaggaa gagaggcaag agtttaagct ggagaggcta
181 gtagaagcca agaatacaac aaaaaaaaac acatggcatt tatctattct caatctctaa
241 aatagatatg ctaatcaccg aagacttttt atgtaaaata gcagtaattg atataccagt
301 attttcagag ttgtgtggaa tgatatgtat attattttag agaaatcttg gtggattcat
361 atggactcaa cttatctttc aggtttattt cttgcattta taaattatat ctaataaact
421 ataagttact gattgttgtg tatatcttga tatataggga ttatttgtgt ttgttataca
481 aaaatcaaat ggaagtagaa tagctaaaat gtatgagtac ttgcacacaa agcacacaca
541 cacacacaca cacacacaca ccataacccc ttaggaaaac actatttcag aatagcgata
601 ttggcatatt tcacatatgc taaatgagtt attccttata gtttcataat gtaactatga
661 aaccagctgt ctgtttactt tttgtggtag gggggatagc tttcctaaca aactaaatac
721 ctaatacaaa tctgagagga aacatatgat tttattaatt tttgtcatga aaacacttaa
781 actttcttgt gttataattt caaacaataa gtgcccccaa gacaggcaaa cttggaagtt
841 tagagaaaat tatacggtat aattgataac aattacagtt tcttttaaca aatactgatt
901 cacgattagt atttttaaaa tacaaaatgc attttcctga atagcattta tttacttgtt
961 aaagaagttg tgtaacacat tcagctaatc taatttctta ctttgtgaag aaatcactca
1021 tctaaagtca aaatatcaag tataaagtct acccttggga gaagcataca gggtgccaga
1081 ctttaaatat ctccagtgtg caaaataaat aatattttct tgaaatatcc tcttatttga
1141 aaatttgcta tagagtcaca agaggcaaat tccatttgag aaagtgcatg ctatatttta
1201 caacgcagaa atgtggagct gagcacacaa catcttattg caaaagtaca attcagaaga
1261 gagtttttac ccttaaaagg ctgtgaagat aagtaaaaat cagccaaaat ttcagtgtga
1321 ataatatgat gtttggcgag gaactctact attgttacac ttaggaaaat aatctaatcc
1381 aaaggctttg catctgtaca gaagagcgag tagatactga aagagatttg cagatccact
1441 gttttttagg caggaagaat gctcgttaaa tgcaaacgct gctctggctc atgtgtttgc
1501 tccgaggtat aggttttgtt cgactgacgt atcagatagt cagagtggtt accacaccga
1561 cgttgtagca gctgcataat aaatgactga aagaatcatg ttaggcatgc ccacctaacc
1621 taacttgaat catgcgaaag gggagctgtt ggaattcaaa tagactttct ggttcccagc
1681 agtcggcagt aatagaatgc tttcaggaag atgacagaat caggagaaag atgctgtttt
1741 gcactatctt gatttgttac agcagccaac ttattggcat gatggagtga cagg
//
LOCUS D3204804 366 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp427p promoter/exon 1 (P-dystrophin - Purkinje
cells).
ACCESSION cJdD1p
KEYWORDS .
SEGMENT 4 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 282)
AUTHORS Gorecki,D.C., Monaco,A.P., Derry,J.M., Walker,A.P., Barnard,E.A.
and Barnard,P.J.
TITLE Expression of four alternative dystrophin transcripts in brain
regions regulated by different promoters
JOURNAL Hum. Mol. Genet. 1 (7), 505-510 (1992)
MEDLINE 93338441
REMARK GenBank S64152
REFERENCE 2 (bases 2 to 364)
AUTHORS Holder,E., Maeda,M. and Bies,R.D.
TITLE Expression and regulation of the dystrophin Purkinje promoter in
human skeletal muscle, heart, and brain
JOURNAL Hum. Genet. 97 (2), 232-239 (1996)
MEDLINE 96163501
REMARK GenBank S81419
REFERENCE 3 (bases 1 to 366)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
COMMENT Constructed consensus sequence GenBank S64152 and S81419.
FEATURES Location/Qualifiers
source 1..366
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
exon <1..364
/gene="DMD"
/standard_name="alternatively spliced Dp427p transcript
(P1B)"
/citation=[2]
/number=1
exon <1..282
/gene="DMD"
/standard_name="Dp427p transcript (P1A)"
/citation=[2]
/number=1
intron <1..>366
/gene="DMD"
/standard_name="dystrophin Dp427m and Dp427c transcripts"
/citation=[1]
/number=1
conflict 30
/gene="DMD"
/note="GenBank S64152"
/replace="- (30delA)"
conflict 47..54
/gene="DMD"
/note="GenBank S64152"
/replace="- (47-54delGCAACCGG)"
CDS 264..>282
/gene="DMD"
/note="dystrophin Dp427p (variant P1A)"
/citation=[1]
/citation=[2]
/codon_start=1
/product="dystrophin Dp427p (P1A)"
/translation="MSEVSS"
CDS 264..290
/gene="DMD"
/note="putative; dystrophin Dp427p (alterntively spliced
variant P1B)"
/citation=[2]
/codon_start=1
/product="dystrophin Dp427p (P1B)"
/translation="MSEVSSGE"
conflict 275
/gene="DMD"
/note="GenBank S64152"
/replace="C"
intron 283..>366
/gene="DMD"
/standard_name="Dp427p transcript"
/number=1
intron 365..>366
/gene="DMD"
/standard_name="Dp427p (alterntively spliced variant P1B)"
/number=1
BASE COUNT 108 a 73 c 88 g 97 t
ORIGIN
1 atgctgtctg tgaagctgaa tctgtgagaa cacctcacta ttcacggcaa ccggagtgga
61 agaaacaggt gcaaaaagat tgtgtgtttg tctgcttttg tgaggctggt cagagattct
121 gtgcctgctt tatctgtgct tggctatgac tctacctcca ggtttaccat accccataga
181 atgtgtaaga gaaaagtacc aacagggaaa tcagcaaaaa gctttcctat gaaggtgtgt
241 agccagcctc cgcagaattt gaaatgtctg aggtttcttc tggtgagtaa aagctgcaga
301 taatcaacag ccattcagaa gaatgataaa tgccacaagc atttggaaac aggcttccct
361 aaaggt
//
LOCUS D3204833 557 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp260 promoter/exon 1 (R-dystrophin - retina) and
dystrophin gene exon 30.
ACCESSION cJdD30
KEYWORDS .
SEGMENT 33 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 431; 99 to 482; 1 to 446; 1 to 436; 313 to 550; 1 to
275; 1 to 339; 293 to 557; 1 to 426; 1 to 260; 1 to 404; 1 to 446;
1 to 360; 1 to 343; 1 to 360; 1 to 500)
AUTHORS Roberts,R., Coffey,A., Bobrow,M. and Bentley,D.
TITLE Exon structure of the dystrophin gene
JOURNAL Genomics 16, 536-538 (1993)
MEDLINE 93300536
REMARK GenBank L04186, L05636, L05637, L05638 (low quality sequence bases
1-115), L05639, L05640, L05641, L05642, L05643, L05644, L05645,
L05646, L05647, L05648, L05649 and L05650
REFERENCE 2 (bases 1 to 506)
AUTHORS White,R.A.
TITLE Identification of cDNAs encoding two human retinal dystrophin
isoforms: alternative splicing of a complex novel first exon
JOURNAL Unpublished (1995)
REMARK GenBank U27203
REFERENCE 3 (bases 1 to 557)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
COMMENT Constructed consensus sequence of GenBank L05642 and U27203.
FEATURES Location/Qualifiers
source 1..557
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
exon <1..95
/gene="DMD"
/standard_name="dystrophin Dp260-1 mRNA"
/note="exon differentially spliced"
/number=1
intron <1..343
/gene="DMD"
/standard_name="dystrophin Dp427m transcript"
/number=29
5'UTR 1..47
/gene="DMD"
/standard_name="dystrophin Dp260-1 mRNA (retina)"
5'UTR <1..199
/gene="DMD"
/standard_name="dystrophin Dp260-2 mRNA (retina)"
exon <1..238
/gene="DMD"
/standard_name="dystrophin Dp260-2 mRNA"
/note="exon differentially spliced"
/number=1
CDS 48..>95
/gene="DMD"
/codon_start=1
/product="dystrophin isoform Dp260-1"
/translation="MTEIILLIFFPAYFLN"
intron 96..343
/gene="DMD"
/standard_name="dystrophin Dp260-1 transcript (retina)"
/number=1
CDS 199..>238
/gene="DMD"
/codon_start=2
/product="dystrophin isoform Dp260-2"
/translation="MSARKLRNLSYKK"
intron 239..343
/gene="DMD"
/standard_name="dystrophin Dp260-2 transcript (retina)"
/number=1
conflict 299..332
/gene="DMD"
/note="sequence difference with GenBank L05642 which
reads: gaagggtaatcgttttacctgatacagtyttatty"
exon 344..505
/gene="DMD"
/number=30
intron 506..>557
/gene="DMD"
/number=30
BASE COUNT 159 a 109 c 111 g 178 t
ORIGIN
1 gttcaagaga tcaggaggaa cattcgacct gagaaagaca gattgcaatg actgagatta
61 ttttgctaat tttttttcca gcctatttcc ttaatgtacg tgatattgtg attgattttc
121 atgcagagat ccctgatcct atagttttgt ttgctattta tttttctcct tcacattttt
181 tttctatcaa cagagctgaa tgagtgccag gaagctgcga aatctgtctt acaaaaaggt
241 gattgtggaa gagtctagaa tcttcattta ttgttcagca ggattacaga aaagctatca
301 agagtaaaca tttaactgat acactcttat tccttctttt taggctgtaa ggaggcaaaa
361 gttgcttgaa cagagcatcc agtctgccca ggagactgaa aaatccttac acttaatcca
421 ggagtccctc acattcattg acaagcagtt ggcagcttat attgcagaca aggtggacgc
481 agctcaaatg cctcaggaag cccaggcaag tacatctggg aatcagcttc cattcttttt
541 gtttgtatga cctcacg
//
LOCUS D3204848 3470 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp140 promoter/exon 1 (CNS and kidney).
ACCESSION cJdDDp140
KEYWORDS .
SEGMENT 48 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 2742 to 2979; 2082 to 2499; 2742 to 2979)
AUTHORS Kochling,S., den Dunnen,J.T., Dworniczak,B. and Horst,J.
TITLE Two polymorphic dinucleotide repeats in intron 44 of the dystrophin
gene
JOURNAL Human Genetics 95, 475-477 (1995)
MEDLINE 95220934
REMARK polymorphic (CA)n-repeat IVS44S12. Direct submission KoS12 and
GenBank X77644
REFERENCE 2 (bases 1 to 3470)
AUTHORS Lidov,H.G.W. and Kunkel,L.M.
TITLE Dp140: alternatively spliced isoforms in brain and kidney
JOURNAL Genomics 45, 132-139 (1997)
REMARK GenBank U90310
REFERENCE 3 (bases 1 to 3470)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
COMMENT Constructed consensus sequence.
FEATURES Location/Qualifiers
source 1..3470
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
intron <1..>3470
/gene="DMD"
/standard_name="dystrophin Dp427 transcript"
/number=44
5'UTR 3372..>3470
/gene="DMD"
/standard_name="dystrophin Dp140 mRNA"
exon 3372..3470
/gene="DMD"
/standard_name="dystrophin Dp140 transcript"
/number=1
BASE COUNT 974 a 668 c 731 g 1097 t
ORIGIN
1 agccagctat gtgagcataa ggggtaggta gctttggtcc tccatgtcca aactgtttgt
61 agtggtaagt gatcttcatt ctcacataga ttgaaagctt cctgaggaca gggcaatgtc
121 tttgtaaact ttaaaatatc tatgtcctgc acatcacctg ccgtagacaa gcatctagta
181 attgacggtt gggtagatac tgagggaaaa catgcaccaa ataaaaatgg caataggaca
241 caaattcact atcatttgga agaataacag tgttttccac tgatatttgc tacacacagt
301 ggggtccaca gagcagcagt accacttggg agcttattgg aaatggagac tctcaggcac
361 caccgcaggt ccaatgaatt aaactctgct ttttttaagg tcatttgtat tcaattatta
421 tttttttctt ttttctttaa ctttcgatgc atttttcttt atttgttttt gagatggggt
481 cttgctattt tgccgagtct ggtcacaaac tcctgagctc aaatgatcct cccacctcag
541 cctcctaagt agctgggatc acagatgtga gccaccacac ctggcttgta tcacattaaa
601 ttttgaggag cagtgcttta atatctattc cattctcatc acttgatgag gtattattaa
661 ttccacttat ggatgtggaa gttgaagcca gaaagtttaa atgacttgta caaggtcaaa
721 cagcttacag gtagttgagc caagaggctc tcaagtcttc tgcctccaca aacccctgtt
781 cagctgctgc cctacaatgg aataaaatat actaatccca gagggacaaa tatgctaaaa
841 atctcaatat tatacacttt ggaaggtgca ggtgcattat ctttcaattc taatttctct
901 ttcaagtttt ctgatgcata aaaatatgaa cagcaggtct gagcaatgtt tagatgccgt
961 gctttgatcc ttttgccatt caagatgttt gatttgcatt ctgccaagga aatgtctggt
1021 aacctccatg atgcagacca caccattagt caagagagag ctgacgtacc ttcatctgag
1081 agctggctgg ctgtgagctg ctcagaggga aaggatttct atttacaaat tgtatcgatt
1141 atttataaat aaaagttccc cttgctttct tcagttgtaa aatctgcagt tagagagtcg
1201 ggaagaagat caaaactgca tacatttgca tctgccaagc ctgataacta gttccagaat
1261 tacagaaatg gtgctgaaat agcacctcaa gtaccaggct ctatcaaatt taatctatcc
1321 ataaggcaac tgccaattat attttagaga aaaaatgtta gactgaaaag atagacaatc
1381 caagtagcaa ctcctgtaaa attatatgcc cataggagca atcttgaaga tataaatatt
1441 ggtatgtttc tccttcattt atcatttatc tgatcatttg acaagtattt attgaatgcc
1501 tgttaagggt gtagatatat gtggtgaggc tgcaggtgta agtaggtctt tctgaggata
1561 tgcatgaagt tgatgttcat aacttggaga tgtgtgtata cagactgagg attccttcag
1621 tggatattaa gaagtggagt aataggcagt aaagaataca ctagtcagtt gtggtacata
1681 aacacgtcag caccacttag gtattaactt cctgttttgt tttgtgtgtg cttaattacg
1741 ctgtttatta aacaagcaca tcataatctg cagatattgt cataaacagc acaataaagc
1801 ctgccacatc agaatgtcat ctatcaaatt aggtgtgttc ctcagctgtc ccgataggca
1861 cacacctgtg cctgtaaata ggcgcttggg ggagattgct tccaggtgtg gatctgttgg
1921 gcgaccttgg gatgtagggc actttggaac cttttcctct agcttcagga attaacctct
1981 gggcttggtt ccatgccagc ttgcattttg ctttgggaca gtaacatgta aagaatatgc
2041 ctgtgaattt agggttactg agaagtcctc atagaagaag taaaatttcc ttgaggaatg
2101 ggagtctttt attcaatcca ggtttaatgc aaggcttggt gaacagctcc agaaggttaa
2161 taattgcgtg cgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtatc cttttgtcat
2221 tcaaaagtat acgtatacac acacacctgt acagctgatg ataaatatac attgtatcaa
2281 tgagttcaaa tgaagtgtgc tattcattca ctgaggaatg ggctattata atgaactatt
2341 atgatattag aaattgtcag ggcaataagc aaataataca tacggttttc aacaaacttt
2401 ctaagtattg ttatcagtgg gtttgcttaa atcttttttt acaaatttat ttattttttt
2461 gagacgaagt ctcgctctgt cgccaggctg gagtgcagtg gtgcaatctc ggctcactgc
2521 aaccactgcc tcccgggttc aaaagattct cctacctcag cctcccgagt agctgagatt
2581 acaggtgtgc gtcaccatgc ccatctaatt ttagtatttt tagtgagaga cgggttttca
2641 ccatgttggc caggacagac tcgatctctt gaccttgtga tccatctgcc tcagtctccc
2701 aaagtgctgg gtttacaggc gtgagccacc gcacccaggc aatagcccca ttgctcagtg
2761 aatgaatagc acactttatt ttaactcatt gatataatgt atatttatca tcagctatac
2821 aggtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtggtgttaa tgcacaaaag
2881 gatacacaca cacactctta ttaaccctct ggagctgttc agcaaacctt gcatttttta
2941 ctttcattac agtgtgtaaa taatttagca aattctaatt tgaacctgat atcaattgag
3001 catttaatat ttagccaaat atttatcaag tgctgactgt gttctagatg ctggggctgc
3061 aatttcgaaa cagaccattg aggccctcat ggagctcaca ataaatgatc ttccttaaag
3121 tatcaggtct ctggtttgtt accgtatttt ttaaattgtt aaggaaagaa aaaggcccta
3181 tctttttgta gacaaacatg ccctaagtgc ttccagaaat aatctccatc aggtaatgca
3241 gactgtgtgt ggagtgaaat tgagtccaat ccatgatcca gcagagtttc agcccaggat
3301 ttctttagag cctttgctac acacaaagtt ggctgatgtg ccattcagca tcccagcagc
3361 tctttctctt cacactagca atggcaaagc tttgtgcgga ggcattgctg gctgctctga
3421 actaaaagca tccgtgggga ccgaaagagg tttttgcaca ccttattaag
//
LOCUS D3204860 240 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp116 promoter/exon 1 (S-dystrophin - peripheral
nerve).
ACCESSION S62618
KEYWORDS .
SEGMENT 60 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 240)
AUTHORS Byers,T.J., Lidov,H.G. and Kunkel,L.M.
TITLE An alternative dystrophin transcript specific to peripheral nerve
JOURNAL Nature Genet. 4 (1), 77-81 (1993)
MEDLINE 93291881
REMARK GenBank S62618
REFERENCE 2 (bases 1 to 240)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
FEATURES Location/Qualifiers
source 1..240
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
intron <1..>240
/gene="DMD"
/standard_name="dystrophin Dp427m transcript"
/number=55
exon 122..212
/gene="DMD"
/standard_name="dystrophin Dp116 transcript"
/number=1
5'UTR 122..182
/gene="DMD"
/standard_name="dystrophin Dp116 mRNA"
CDS 183..>212
/gene="DMD"
/codon_start=1
/product="dystrophin isoform Dp116"
/translation="MLHRKTYHVK"
intron 213..>240
/gene="DMD"
/standard_name="dystrophin Dp116 transcript"
/number=1
BASE COUNT 67 a 43 c 55 g 75 t
ORIGIN
1 agtgcggagt acaaagtggc cgtttattat tattgactgg tgaggcctgt gctccaaaat
61 tcattctgtc aacagaatgt aagcaaagtt ggcattttaa agcagggctc tttcagtttc
121 tgggttttct caggattgct atgcaacagg atcagtgctg tagtgcccgg ttcaagctga
181 aaatgttaca caggaagaca taccatgtaa aggtcagatt cttctactat aataattttc
//
LOCUS D3204868 314 bp PRI 01-JAN-1900
DEFINITION Dystrophin gene Dp71/Dp40 promoter/exon 1.
ACCESSION S42212
KEYWORDS .
SEGMENT 68 of 85
SOURCE human.
ORGANISM Homo sapiens
Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata;
Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 314)
AUTHORS Hugnot,J.P., Gilgenkrantz,H., Vincent,N., Chafey,P., Morris,G.E.,
Monaco,A.P., Berwald-Netter,Y., Koulakoff,A., Kaplan,J.C., Kahn,A.
et,al.
TITLE Distal transcript of the dystrophin gene initiated from an
alternative first exon and encoding a 75-kDa protein widely
distributed in nonmuscle tissues
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (16), 7506-7510 (1992)
MEDLINE 92366490
REMARK GenBank S42212
REFERENCE 2 (bases 1 to 314)
AUTHORS Den Dunnen,J.T.
TITLE The human dystrophin (DMD) gene
JOURNAL Unpublished (1997)
REMARK More detailed information on http://www.dmd.nl/
FEATURES Location/Qualifiers
source 1..314
/organism="Homo sapiens"
/chromosome="X"
/map="Xp21.2"
intron <1..>314
/gene="DMD"
/standard_name="dystrophin Dp427m transcript"
/number=62
5'UTR 121..276
/gene="DMD"
/standard_name="Dp71/Dp40 transcript"
exon 121..296
/gene="DMD"
/standard_name="dystrophin Dp71/Dp40 transcript"
/number=1
CDS 277..>296
/gene="DMD"
/codon_start=1
/product="dystrophin isoform Dp71/Dp40"
/translation="MREQLKG"
intron 297..>314
/gene="DMD"
/standard_name="dystrophin Dp71/Dp40 transcript"
/number=1
BASE COUNT 39 a 117 c 95 g 63 t
ORIGIN
1 ctttctcttt tctttttcct ttccgttttg aaagcccaac tgccagtctc tgggtgtccg
61 ggttcccagg tccctaggtg ggcgagccga cacacgcccg ccccgtctgg gggcagcgcc
121 ccctccccgg cccgcccgcg ccggctcctc cgcagtgctt tcagctgtga gcttgggcgg
181 cggcggcggc ggcgctccac tttcggggag cccggcggct ctgggaagct cactcctcca
241 ctcgtaccca cactcgaccg cggagccctt gcagccatga gggaacagct caaagggtaa
301 gtggatcgcg gccc
//
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