(last modified March 2, 1999)
Submitted to GenBank
LOCUS Dp40 1712 bp mRNA PRI 20-JAN-1998
DEFINITION Human dystrophin cDNA isoform Dp40 (apo-dystrophin 3).
ACCESSION Dp40
KEYWORDS .
SOURCE human.
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Vertebrata; Mammalia; Eutheria;
Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 800 to 1712)
AUTHORS Feener,C.A., Koenig,M. and Kunkel,L.M.
TITLE Alternative splicing of human dystrophin mRNA generates isoforms at
the carboxy terminus
JOURNAL Nature 338, 509-511 (1989)
MEDLINE 89181947
REFERENCE 2 (bases 105 to 1179)
AUTHORS Lederfein,D., Levy,Z., Augier,N., Mornet,D., Morris,G., Fuchs,O.,
Yaffe,D. and Nudel,U.
TITLE A 71-kilodalton protein is a major product of the Duchenne muscular
dystrophy gene in brian and other nonmuscle tissues
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89, 5346-5350 (1992)
MEDLINE 92302239
REFERENCE 3 (bases 1 to 176)
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
REFERENCE 4 (bases 1 to 1712)
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JOURNAL Unpublished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 of GenBank S42212, M92650 and
M18533.
FEATURES Location/Qualifiers
source 1..1712
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.2"
5'UTR 1..156
misc_feature 157..177
/note="Region: dystrophin Dp71/40 unique N-terminus"
CDS 157..1179
/codon_start=1
/product="dystrophin Dp40"
/translation="MREQLKGHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKL
RRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVN
VPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGF
CDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMR
LEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSG
RVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLE
GDNMET"
misc_feature <178..228
/note="Region: WW-domain"
misc_feature <178..288
/note="Region: hinge region 4"
misc_feature 190..1176
/note="dystroglycan binding site"
misc_feature 250..852
/note="Region: Cysteine-rich domain"
misc_feature 340..423
/note="Region: EF-hand 1"
misc_feature 484..570
/note="Region: EF-hand 2"
misc_feature 850..>1176
/note="Region: Carboxy-terminal region"
misc_feature 871..1014
/note="Region: ZZ-domain"
3'UTR 1180..>1712
BASE COUNT 471 a 418 c 371 g 452 t
ORIGIN
1 ccctccccgg cccgcccgcg ccggctcctc cgcagtgctt tcagctgtga gcttgggcgg
61 cggcggcggc ggcgctccac tttcggggag cccggcggct ctgggaagct cactcctcca
121 ctcgtaccca cactcgaccg cggagccctt gcagccatga gggaacagct caaaggccac
181 gagactcaaa caacttgctg ggaccatccc aaaatgacag agctctacca gtctttagct
241 gacctgaata atgtcagatt ctcagcttat aggactgcca tgaaactccg aagactgcag
301 aaggcccttt gcttggatct cttgagcctg tcagctgcat gtgatgcctt ggaccagcac
361 aacctcaagc aaaatgacca gcccatggat atcctgcaga ttattaattg tttgaccact
421 atttatgacc gcctggagca agagcacaac aatttggtca acgtccctct ctgcgtggat
481 atgtgtctga actggctgct gaatgtttat gatacgggac gaacagggag gatccgtgtc
541 ctgtctttta aaactggcat catttccctg tgtaaagcac atttggaaga caagtacaga
601 taccttttca agcaagtggc aagttcaaca ggattttgtg accagcgcag gctgggcctc
661 cttctgcatg attctatcca aattccaaga cagttgggtg aagttgcatc ctttgggggc
721 agtaacattg agccaagtgt ccggagctgc ttccaatttg ctaataataa gccagagatc
781 gaagcggccc tcttcctaga ctggatgaga ctggaacccc agtccatggt gtggctgccc
841 gtcctgcaca gagtggctgc tgcagaaact gccaagcatc aggccaaatg taacatctgc
901 aaagagtgtc caatcattgg attcaggtac aggagtctaa agcactttaa ttatgacatc
961 tgccaaagct gctttttttc tggtcgagtt gcaaaaggcc ataaaatgca ctatcccatg
1021 gtggaatatt gcactccgac tacatcagga gaagatgttc gagactttgc caaggtacta
1081 aaaaacaaat ttcgaaccaa aaggtatttt gcgaagcatc cccgaatggg ctacctgcca
1141 gtgcagactg tcttagaggg ggacaacatg gaaacgtgag tagtagcaaa agcagaacac
1201 actcttgttt gatgtatatt tgaactcctc tcagctgaac accctccttt cactcccaaa
1261 tgcaaacagt ctcttctatt tctttctttt tatttacatt agctgaaaag agaaaaataa
1321 gctgatgtcc agttgccact ttcccacgtc acttgacaat ttctttttcc aaaagttaaa
1381 ctttatctca cagggggaaa aaaaaaaaaa aaccacaaca caatacagcc actaattgcc
1441 ttacaagcct tataagaaat atgggactgt ttacaaatga gtgattccag tatttcattt
1501 tgattttctc tctcacaatc agtaatgtgt gtctttgtat ctcatgtgtg gtcatatcta
1561 gtcactgtct actcacaaat cagtaaatgc ttgtgtcttt ttgtatctca ttgtgtgtgg
1621 tcatatctag tcacttgctt tctaccaaaa gaaaatatag tcacaggaaa ctactcacgt
1681 aagtagtaat gattctcaag atcaaagggg ag
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