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2024-04-19 22:19:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004012 9914 bp mRNA linear PRI 26-MAY-2013
DEFINITION Homo sapiens dystrophin (DMD), transcript variant Dp260-2, mRNA.
ACCESSION NM_004012
VERSION NM_004012.3 GI:238018049
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 9914)
AUTHORS Suzuki,H., Kameyama,T., Ohe,K., Tsukahara,T. and Mayeda,A.
TITLE Nested introns in an intron: evidence of multi-step splicing in a
large intron of the human dystrophin pre-mRNA
JOURNAL FEBS Lett. 587 (6), 555-561 (2013)
PUBMED 23395799
REMARK GeneRIF: The evidence obtained for multi-step splicing in a large
intron of the human dystrophin pre-mRNA.
REFERENCE 2 (bases 1 to 9914)
AUTHORS Singh,S.M. and Mallela,K.M.
TITLE The N-terminal actin-binding tandem calponin-homology (CH) domain
of dystrophin is in a closed conformation in solution and when
bound to F-actin
JOURNAL Biophys. J. 103 (9), 1970-1978 (2012)
PUBMED 23199925
REMARK GeneRIF: In solution, dystrophin N-terminal actin-binding domain
binds to F-actin in a closed conformation.
REFERENCE 3 (bases 1 to 9914)
AUTHORS Bovolenta,M., Erriquez,D., Valli,E., Brioschi,S., Scotton,C.,
Neri,M., Falzarano,M.S., Gherardi,S., Fabris,M., Rimessi,P.,
Gualandi,F., Perini,G. and Ferlini,A.
TITLE The DMD locus harbours multiple long non-coding RNAs which
orchestrate and control transcription of muscle dystrophin mRNA
isoforms
JOURNAL PLoS ONE 7 (9), E45328 (2012)
PUBMED 23028937
REMARK GeneRIF: Findings reveal that DMD lncRNAs may contribute to the
orchestration and homeostasis of the muscle dystrophin expression
pattern by either selective targeting and down-modulating the
dystrophin promoter transcriptional activity.
REFERENCE 4 (bases 1 to 9914)
AUTHORS Brioschi,S., Gualandi,F., Scotton,C., Armaroli,A., Bovolenta,M.,
Falzarano,M.S., Sabatelli,P., Selvatici,R., D'Amico,A., Pane,M.,
Ricci,G., Siciliano,G., Tedeschi,S., Pini,A., Vercelli,L., De
Grandis,D., Mercuri,E., Bertini,E., Merlini,L., Mongini,T. and
Ferlini,A.
TITLE Genetic characterization in symptomatic female DMD carriers: lack
of relationship between X-inactivation, transcriptional DMD allele
balancing and phenotype
JOURNAL BMC Med. Genet. 13, 73 (2012)
PUBMED 22894145
REMARK GeneRIF: No relationship between X-inactivation pattern and
transcriptional behaviour of DMD gene was observed in Duchenne
muscular dystrophies.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 9914)
AUTHORS Kapoor,S., Bindu,P.S., Taly,A.B., Sinha,S., Gayathri,N., Rani,S.V.,
Chandak,G.R. and Kumar,A.
TITLE Genetic analysis of an Indian family with members affected with
Waardenburg syndrome and Duchenne muscular dystrophy
JOURNAL Mol. Vis. 18, 2022-2032 (2012)
PUBMED 22876130
REMARK GeneRIF: A novel missense mutation in EDN3 and a deletion mutation
in DMD has been found in the same Indian family members affected
with Waardenburg syndrome and Duchenne muscular dystrophy.
REFERENCE 6 (bases 1 to 9914)
AUTHORS Nigro,V., Politano,L., Nigro,G., Romano,S.C., Molinari,A.M. and
Puca,G.A.
TITLE Detection of a nonsense mutation in the dystrophin gene by multiple
SSCP
JOURNAL Hum. Mol. Genet. 1 (7), 517-520 (1992)
PUBMED 1307253
REFERENCE 7 (bases 1 to 9914)
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)
PUBMED 1307251
REFERENCE 8 (bases 1 to 9914)
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 brain and other nonmuscle tissues
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (12), 5346-5350 (1992)
PUBMED 1319059
REFERENCE 9 (bases 1 to 9914)
AUTHORS Rapaport,D., Lederfein,D., den Dunnen,J.T., Grootscholten,P.M., Van
Ommen,G.J., Fuchs,O., Nudel,U. and Yaffe,D.
TITLE Characterization and cell type distribution of a novel, major
transcript of the Duchenne muscular dystrophy gene
JOURNAL Differentiation 49 (3), 187-193 (1992)
PUBMED 1377655
REFERENCE 10 (bases 1 to 9914)
AUTHORS Koenig,M., Monaco,A.P. and Kunkel,L.M.
TITLE The complete sequence of dystrophin predicts a rod-shaped
cytoskeletal protein
JOURNAL Cell 53 (2), 219-228 (1988)
PUBMED 3282674
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL109609.5, M18533.1 and
BC028720.1.
On May 24, 2009 this sequence version replaced gi:150036269.
Summary: The dystrophin gene is the largest gene found in nature,
measuring 2.4 Mb. The gene was identified through a positional
cloning approach, targeted at the isolation of the gene responsible
for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a
recessive, fatal, X-linked disorder occurring at a frequency of
about 1 in 3,500 new-born males. BMD is a milder allelic form. In
general, DMD patients carry mutations which cause premature
translation termination (nonsense or frame shift mutations), while
in BMD patients dystrophin is reduced either in molecular weight
(derived from in-frame deletions) or in expression level. The
dystrophin gene is highly complex, containing at least eight
independent, tissue-specific promoters and two polyA-addition
sites. Furthermore, dystrophin RNA is differentially spliced,
producing a range of different transcripts, encoding a large set of
protein isoforms. Dystrophin (as encoded by the Dp427 transcripts)
is a large, rod-like cytoskeletal protein which is found at the
inner surface of muscle fibers. Dystrophin is part of the
dystrophin-glycoprotein complex (DGC), which bridges the inner
cytoskeleton (F-actin) and the extra-cellular matrix. [provided by
RefSeq, Jul 2008].
Transcript Variant: transcript Dp260-2 uses exons 30-79, starting
from a promoter/exon 1 sequence located in intron 29 of the
dystrophin gene that is alternatively spliced and lacks N-terminal
amino acids 1-1357 of the full length dystrophin (Dp427m isoform).
The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK
sequence.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-236 AL109609.5 101912-102147 c
237-570 M18533.1 4280-4613
571-571 AL109609.5 79506-79506 c
572-1694 M18533.1 4615-5737
1695-1695 AL109609.5 35892-35892 c
1696-8669 M18533.1 5739-12712
8670-9914 BC028720.1 3398-4642
FEATURES Location/Qualifiers
source 1..9914
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.2"
gene 1..9914
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="dystrophin"
/db_xref="GeneID:1756"
/db_xref="HGNC:2928"
/db_xref="HPRD:02303"
/db_xref="MIM:300377"
variation 23
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72468651"
variation 157
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:72468650"
misc_feature 195..197
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="upstream in-frame stop codon"
CDS 198..7223
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Dp260-2 isoform is encoded by transcript variant
Dp260-2"
/codon_start=1
/product="dystrophin Dp260-2 isoform"
/protein_id="NP_004003.1"
/db_xref="GI:5032291"
/db_xref="GeneID:1756"
/db_xref="HGNC:2928"
/db_xref="HPRD:02303"
/db_xref="MIM:300377"
/translation="
MSARKLRNLSYKKAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVQETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM
"
misc_feature 198..236
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: dystrophin Dp260-2 unique N-terminus"
misc_feature <237..5285
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: central rod domain"
misc_feature <237..266
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 9"
misc_feature 267..554
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 10"
misc_feature 546..869
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 11"
misc_feature 564..1193
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 870..1193
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 12"
misc_feature 870..887
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1194..1499
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 13"
misc_feature 1200..1493
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeat; Region: Spectrin; pfam00435"
/db_xref="CDD:201223"
misc_feature 1275..2102
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Uncharacterized archaeal coiled-coil protein
[Function unknown]; Region: COG1340"
/db_xref="CDD:31531"
misc_feature 1500..1787
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 14"
misc_feature 1503..2069
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1788..2084
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 15"
misc_feature 1791..1808
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 2139..2468
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 16"
misc_feature 2163..2789
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 2469..2789
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 17"
misc_feature 2469..2486
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 2478..3125
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 2790..3119
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 18"
misc_feature order(2790..2798,2802..2810)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 3120..3434
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 19"
misc_feature 3435..3575
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: hinge region 3"
misc_feature 3576..3896
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 20"
misc_feature 3579..4229
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 3897..4223
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 21"
misc_feature 3897..3914
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4224..4571
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 22"
misc_feature 4233..4964
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 4572..4958
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 23"
misc_feature 4572..4589
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4959..5285
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 24"
misc_feature 4968..>5300
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 5205..5501
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: hinge region 4"
misc_feature 5286..5300
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 5331..5441
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: WW-domain"
misc_feature 5340..5429
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Two conserved tryptophans domain; also known as the
WWP or rsp5 domain; around 40 amino acids; functions as an
interaction module in a diverse set of signalling
proteins; binds specific proline-rich sequences but at low
affinities compared to other...; Region: WW; cd00201"
/db_xref="CDD:29258"
misc_feature order(5379..5381,5412..5414)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 5403..6389
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="dystroglycan binding site"
misc_feature 5424..5786
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="EF hand; Region: efhand_1; pfam09068"
/db_xref="CDD:149945"
misc_feature 5463..6065
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: Cysteine-rich domain"
misc_feature 5553..5636
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: EF-hand 1"
misc_feature 5697..5783
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: EF-hand 2"
misc_feature 5796..6071
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="EF-hand; Region: efhand_2; pfam09069"
/db_xref="CDD:149946"
misc_feature 6063..7220
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: Carboxy-terminal region"
misc_feature 6084..6227
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: ZZ-domain"
misc_feature 6096..6242
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Zinc finger, ZZ type. Zinc finger present in
dystrophin and dystrobrevin. The ZZ motif coordinates two
zinc ions and most likely participates in ligand binding
or molecular scaffolding. Dystrophin attaches actin
filaments to an integral membrane...; Region:
ZZ_dystrophin; cd02334"
/db_xref="CDD:30238"
misc_feature order(6102..6104,6111..6113,6147..6149,6156..6158,
6174..6176,6183..6185,6213..6215,6225..6227)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Zinc-binding sites [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature order(6102..6104,6111..6113,6174..6176,6183..6185)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="zinc cluster 1 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature order(6105..6107,6138..6140,6144..6146,6162..6164,
6168..6170)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="putative charged binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(6141..6143,6186..6188,6231..6233,6240..6242)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="putative hydrophobic binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(6147..6149,6156..6158,6213..6215,6225..6227)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="zinc cluster 2 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature 6438..6440
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6495..6647
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="alpha1-syntrophin binding site"
misc_feature 6648..6770
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="beta1-syntrophin binding site"
misc_feature 6837..6944
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: (Leu)6-heptad repeat"
variation 206
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72468649"
variation 296
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1800263"
variation 440
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72468647"
variation 571
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:1057872"
variation 694
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72468638"
STS 697..809
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99582"
variation 1042
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:72468634"
variation 1142
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1801185"
variation 1205
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72468632"
variation 1328
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="g"
/db_xref="dbSNP:72468630"
variation 1399
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1801187"
STS 1576..2133
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="MARC_84357-84358:1278016549:1"
/db_xref="UniSTS:532591"
variation 1624
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800271"
variation 1695
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:1064325"
variation 1697
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:1801186"
STS 1801..1895
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99541"
variation 1940
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800272"
variation 2193
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="g"
/replace="t"
/db_xref="dbSNP:72468613"
STS 2457..2581
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99225"
variation 2628
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800273"
STS 2831..2913
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99066"
variation 2993
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72466595"
variation 3245
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800274"
variation 3261
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:1800275"
variation 3348
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466590"
STS 3529..3640
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS7499"
/db_xref="UniSTS:30753"
variation 3893
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1801188"
variation 3985
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:72466581"
STS 4050..4185
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99382"
variation 4220
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1801189"
STS 4392..4491
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99545"
variation 4487
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:72466575"
variation 4661
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:72466574"
variation 4736
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72466570"
variation 4744
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:72466569"
variation 4975
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800280"
STS 4986..5088
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99400"
variation 5017
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466567"
variation 5258
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72466563"
variation 5259
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466562"
STS 5737..5804
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99128"
variation 6785
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466538"
variation 6954
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800281"
variation 7183
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1795743"
STS 7305..7498
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="PMC316713P2"
/db_xref="UniSTS:273040"
STS 7573..7761
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="G15848"
/db_xref="UniSTS:3168"
STS 7614..7746
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS1234"
/db_xref="UniSTS:146800"
variation 7703..7704
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="acac"
/replace="taca"
/db_xref="dbSNP:3833413"
variation 8147
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="acaa"
/db_xref="dbSNP:72466531"
variation 8191
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="t"
/db_xref="dbSNP:72466530"
STS 8229..8297
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS503"
/db_xref="UniSTS:99031"
variation 8271
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="gat"
/db_xref="dbSNP:72466529"
variation 8468
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="cttt"
/db_xref="dbSNP:72466527"
STS 8535..8685
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS6988E"
/db_xref="UniSTS:32060"
variation 8670
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:3361"
STS 8691..8791
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="A002S20"
/db_xref="UniSTS:57879"
variation 8788
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="aaag"
/db_xref="dbSNP:72466526"
variation 8814
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="tgtt"
/db_xref="dbSNP:72466525"
variation 8954
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:3198427"
variation 8981
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="ttcat"
/db_xref="dbSNP:72466524"
variation 9262
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:72466523"
variation 9376
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="atgtgacgctggacctt"
/db_xref="dbSNP:72466522"
variation 9408
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:11550191"
variation 9460
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="aagt"
/db_xref="dbSNP:72466521"
STS 9541..9732
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:506537"
variation 9650
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057915"
STS 9798..9882
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="PMC108984P1"
/db_xref="UniSTS:270148"
variation 9804
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="actt"
/db_xref="dbSNP:72466520"
polyA_signal 9892..9897
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
polyA_site 9914
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
ORIGIN
taatgagatcaggaggaacattcgacctgagaaagacagattgcaatgactgagatgattttgctaattttttttccagcctatttccttaatgtacgtgatattgtgattgattttcatgcagagatccctgatcctatagttttgtttgctatttatttttctccttcacattttttttctatcaacagagctgaatgagtgccaggaagctgcgaaatctgtcttacaaaaaggctgtaaggaggcaaaagttgcttgaacagagcatccagtctgcccaggagactgaaaaatccttacacttaatccaggagtccctcacattcattgacaagcagttggcagcttatattgcagacaaggtggacgcagctcaaatgcctcaggaagcccagaaaatccaatctgatttgacaagtcatgagatcagtttagaagaaatgaagaaacataatcaggggaaggaggctgcccaaagagtcctgtctcagattgatgttgcacagaaaaaattacaagatgtctccatgaagtttcgattattccagaaaccagccaattttgagcagcgtctacaagaaagtaagatgattttagatgaagtgaagatgcacttgcctgcattggaaacaaagagtgtggaacaggaagtagtacagtcacagctaaatcattgtgtgaacttgtataaaagtctgagtgaagtgaagtctgaagtggaaatggtgataaagactggacgtcagattgtacagaaaaagcagacggaaaatcccaaagaacttgatgaaagagtaacagctttgaaattgcattataatgagctgggagcaaaggtaacagaaagaaagcaacagttggagaaatgcttgaaattgtcccgtaagatgcgaaaggaaatgaatgtcttgacagaatggctggcagctacagatatggaattgacaaagagatcagcagttgaaggaatgcctagtaatttggattctgaagttgcctggggaaaggctactcaaaaagagattgagaaacagaaggtgcacctgaagagtatcacagaggtaggagaggccttgaaaacagttttgggcaagaaggagacgttggtggaagataaactcagtcttctgaatagtaactggatagctgtcacctcccgagcagaagagtggttaaatcttttgttggaataccagaaacacatggaaacttttgaccagaatgtggaccacatcacaaagtggatcattcaggctgacacacttttggatgaatcagagaaaaagaaaccccagcaaaaagaagacgtgcttaagcgtttaaaggcagaactgaatgacatacgcccaaaggtggactctacacgtgaccaagcagcaaacttgatggcaaaccgcggtgaccactgcaggaaattagtagagccccaaatctcagagctcaaccatcgatttgcagccatttcacacagaattaagactggaaaggcctccattcctttgaaggaattggagcagtttaactcagatatacaaaaattgcttgaaccactggaggctgaaattcagcagggggtgaatctgaaagaggaagacttcaataaagatatgaatgaagacaatgagggtactgtaaaagaattgttgcaaagaggagacaacttacaacaaagaatcacagatgagagaaagcgagaggaaataaagataaaacagcagctgttacagacaaaacataatgctctcaaggatttgaggtctcaaagaagaaaaaaggctctagaaatttctcatcagtggtatcagtacaagaggcaggctgatgatctcctgaaatgcttggatgacattgaaaaaaaattagccagcctacctgagcccagagatgaaaggaaaataaaggaaattgatcgggaattgcagaagaagaaagaggagctgaatgcagtgcgtaggcaagctgagggcttgtctgaggatggggccgcaatggcagtggagccaactcagatccagctcagcaagcgctggcgggaaattgagagcaaatttgctcagtttcgaagactcaactttgcacaaattcacactgtccgtgaagaaacgatgatggtgatgactgaagacatgcctttggaaatttcttatgtgccttctacttatttgactgaaatcactcatgtctcacaagccctattagaagtggaacaacttctcaatgctcctgacctctgtgctaaggactttgaagatctctttaagcaagaggagtctctgaagaatataaaagatagtctacaacaaagctcaggtcggattgacattattcatagcaagaagacagcagcattgcaaagtgcaacgcctgtggaaagggtgaagctacaggaagctctctcccagcttgatttccaatgggaaaaagttaacaaaatgtacaaggaccgacaagggcgatttgacagatctgttgagaaatggcggcgttttcattatgatataaagatatttaatcagtggctaacagaagctgaacagtttctcagaaagacacaaattcctgagaattgggaacatgctaaatacaaatggtatcttaaggaactccaggatggcattgggcagcggcaaactgttgtcagaacattgaatgcaactggggaagaaataattcagcaatcctcaaaaacagatgccagtattctacaggaaaaattgggaagcctgaatctgcggtggcaggaggtctgcaaacagctgtcagacagaaaaaagaggctagaagaacaaaagaatatcttgtcagaatttcaaagagatttaaatgaatttgttttatggttggaggaagcagataacattgctagtatcccacttgaacctggaaaagagcagcaactaaaagaaaagcttgagcaagtcaagttactggtggaagagttgcccctgcgccagggaattctcaaacaattaaatgaaactggaggacccgtgcttgtaagtgctcccataagcccagaagagcaagataaacttgaaaataagctcaagcagacaaatctccagtggataaaggtttccagagctttacctgagaaacaaggagaaattgaagctcaaataaaagaccttgggcagcttgaaaaaaagcttgaagaccttgaagagcagttaaatcatctgctgctgtggttatctcctattaggaatcagttggaaatttataaccaaccaaaccaagaaggaccatttgacgttcaggaaactgaaatagcagttcaagctaaacaaccggatgtggaagagattttgtctaaagggcagcatttgtacaaggaaaaaccagccactcagccagtgaagaggaagttagaagatctgagctctgagtggaaggcggtaaaccgtttacttcaagagctgagggcaaagcagcctgacctagctcctggactgaccactattggagcctctcctactcagactgttactctggtgacacaacctgtggttactaaggaaactgccatctccaaactagaaatgccatcttccttgatgttggaggtacctgctctggcagatttcaaccgggcttggacagaacttaccgactggctttctctgcttgatcaagttataaaatcacagagggtgatggtgggtgaccttgaggatatcaacgagatgatcatcaagcagaaggcaacaatgcaggatttggaacagaggcgtccccagttggaagaactcattaccgctgcccaaaatttgaaaaacaagaccagcaatcaagaggctagaacaatcattacggatcgaattgaaagaattcagaatcagtgggatgaagtacaagaacaccttcagaaccggaggcaacagttgaatgaaatgttaaaggattcaacacaatggctggaagctaaggaagaagctgagcaggtcttaggacaggccagagccaagcttgagtcatggaaggagggtccctatacagtagatgcaatccaaaagaaaatcacagaaaccaagcagttggccaaagacctccgccagtggcagacaaatgtagatgtggcaaatgacttggccctgaaacttctccgggattattctgcagatgataccagaaaagtccacatgataacagagaatatcaatgcctcttggagaagcattcataaaagggtgagtgagcgagaggctgctttggaagaaactcatagattactgcaacagttccccctggacctggaaaagtttcttgcctggcttacagaagctgaaacaactgccaatgtcctacaggatgctacccgtaaggaaaggctcctagaagactccaagggagtaaaagagctgatgaaacaatggcaagacctccaaggtgaaattgaagctcacacagatgtttatcacaacctggatgaaaacagccaaaaaatcctgagatccctggaaggttccgatgatgcagtcctgttacaaagacgtttggataacatgaacttcaagtggagtgaacttcggaaaaagtctctcaacattaggtcccatttggaagccagttctgaccagtggaagcgtctgcacctttctctgcaggaacttctggtgtggctacagctgaaagatgatgaattaagccggcaggcacctattggaggcgactttccagcagttcagaagcagaacgatgtacatagggccttcaagagggaattgaaaactaaagaacctgtaatcatgagtactcttgagactgtacgaatatttctgacagagcagcctttggaaggactagagaaactctaccaggagcccagagagctgcctcctgaggagagagcccagaatgtcactcggcttctacgaaagcaggctgaggaggtcaatactgagtgggaaaaattgaacctgcactccgctgactggcagagaaaaatagatgagacccttgaaagactccaggaacttcaagaggccacggatgagctggacctcaagctgcgccaagctgaggtgatcaagggatcctggcagcccgtgggcgatctcctcattgactctctccaagatcacctcgagaaagtcaaggcacttcgaggagaaattgcgcctctgaaagagaacgtgagccacgtcaatgaccttgctcgccagcttaccactttgggcattcagctctcaccgtataacctcagcactctggaagacctgaacaccagatggaagcttctgcaggtggccgtcgaggaccgagtcaggcagctgcatgaagcccacagggactttggtccagcatctcagcactttctttccacgtctgtccagggtccctgggagagagccatctcgccaaacaaagtgccctactatatcaaccacgagactcaaacaacttgctgggaccatcccaaaatgacagagctctaccagtctttagctgacctgaataatgtcagattctcagcttataggactgccatgaaactccgaagactgcagaaggccctttgcttggatctcttgagcctgtcagctgcatgtgatgccttggaccagcacaacctcaagcaaaatgaccagcccatggatatcctgcagattattaattgtttgaccactatttatgaccgcctggagcaagagcacaacaatttggtcaacgtccctctctgcgtggatatgtgtctgaactggctgctgaatgtttatgatacgggacgaacagggaggatccgtgtcctgtcttttaaaactggcatcatttccctgtgtaaagcacatttggaagacaagtacagataccttttcaagcaagtggcaagttcaacaggattttgtgaccagcgcaggctgggcctccttctgcatgattctatccaaattccaagacagttgggtgaagttgcatcctttgggggcagtaacattgagccaagtgtccggagctgcttccaatttgctaataataagccagagatcgaagcggccctcttcctagactggatgagactggaaccccagtccatggtgtggctgcccgtcctgcacagagtggctgctgcagaaactgccaagcatcaggccaaatgtaacatctgcaaagagtgtccaatcattggattcaggtacaggagtctaaagcactttaattatgacatctgccaaagctgctttttttctggtcgagttgcaaaaggccataaaatgcactatcccatggtggaatattgcactccgactacatcaggagaagatgttcgagactttgccaaggtactaaaaaacaaatttcgaaccaaaaggtattttgcgaagcatccccgaatgggctacctgccagtgcagactgtcttagagggggacaacatggaaactcccgttactctgatcaacttctggccagtagattctgcgcctgcctcgtcccctcagctttcacacgatgatactcattcacgcattgaacattatgctagcaggctagcagaaatggaaaacagcaatggatcttatctaaatgatagcatctctcctaatgagagcatagatgatgaacatttgttaatccagcattactgccaaagtttgaaccaggactcccccctgagccagcctcgtagtcctgcccagatcttgatttccttagagagtgaggaaagaggggagctagagagaatcctagcagatcttgaggaagaaaacaggaatctgcaagcagaatatgaccgtctaaagcagcagcacgaacataaaggcctgtccccactgccgtcccctcctgaaatgatgcccacctctccccagagtccccgggatgctgagctcattgctgaggccaagctactgcgtcaacacaaaggccgcctggaagccaggatgcaaatcctggaagaccacaataaacagctggagtcacagttacacaggctaaggcagctgctggagcaaccccaggcagaggccaaagtgaatggcacaacggtgtcctctccttctacctctctacagaggtccgacagcagtcagcctatgctgctccgagtggttggcagtcaaacttcggactccatgggtgaggaagatcttctcagtcctccccaggacacaagcacagggttagaggaggtgatggagcaactcaacaactccttccctagttcaagaggaagaaatacccctggaaagccaatgagagaggacacaatgtaggaagtcttttccacatggcagatgatttgggcagagcgatggagtccttagtatcagtcatgacagatgaagaaggagcagaataaatgttttacaactcctgattcccgcatggtttttataatattcatacaacaaagaggattagacagtaagagtttacaagaaataaatctatatttttgtgaagggtagtggtattatactgtagatttcagtagtttctaagtctgttattgttttgttaacaatggcaggttttacacgtctatgcaattgtacaaaaaagttataagaaaactacatgtaaaatcttgatagctaaataacttgccatttctttatatggaacgcattttgggttgtttaaaaatttataacagttataaagaaagattgtaaactaaagtgtgctttataaaaaaaagttgtttataaaaacccctaaaaacaaaacaaacacacacacacacacatacacacacacacacaaaactttgaggcagcgcattgttttgcatccttttggcgtgatatccatatgaaattcatggctttttctttttttgcatattaaagataagacttcctctaccaccacaccaaatgactactacacactgctcatttgagaactgtcagctgagtggggcaggcttgagttttcatttcatatatctatatgtctataagtatataaatactatagttatatagataaagagatacgaatttctatagactgactttttccattttttaaatgttcatgtcacatcctaatagaaagaaattacttctagtcagtcatccaggcttacctgcttggtctagaatggatttttcccggagccggaagccaggaggaaactacaccacactaaaacattgtctacagctccagatgtttctcattttaaacaactttccactgacaacgaaagtaaagtaaagtattggatttttttaaagggaacatgtgaatgaatacacaggacttattatatcagagtgagtaatcggttggttggttgattgattgattgattgatacattcagcttcctgctgctagcaatgccacgatttagatttaatgatgcttcagtggaaatcaatcagaaggtattctgaccttgtgaacatcagaaggtattttttaactcccaagcagtagcaggacgatgatagggctggagggctatggattcccagcccatccctgtgaaggagtaggccactctttaagtgaaggattggatgattgttcataatacataaagttctctgtaattacaactaaattattatgccctcttctcacagtcaaaaggaactgggtggtttggtttttgttgcttttttagatttattgtcccatgtgggatgagtttttaaatgccacaagacataatttaaaataaataaactttgggaaaaggtgtaaaacagtagccccatcacatttgtgatactgacaggtatcaacccagaagcccatgaactgtgtttccatcctttgcatttctctgcgagtagttccacacaggtttgtaagtaagtaagaaagaaggcaaattgattcaaatgttacaaaaaaacccttcttggtggattagacaggttaaatatataaacaaacaaacaaaaattgctcaaaaaagaggagaaaagctcaagaggaaaagctaaggactggtaggaaaaagctttactctttcatgccattttatttctttttgatttttaaatcattcattcaatagataccaccgtgtgacctataattttgcaaatctgttacctctgacatcaagtgtaattagcttttggagagtgggctgacatcaagtgtaattagcttttggagagtgggttttgtccattattaataattaattaattaacatcaaacacggcttctcatgctatttctacctcactttggttttggggtgttcctgataattgtgcacacctgagttcacagcttcaccacttgtccattgcgttattttctttttcctttataattctttctttttccttcataattttcaaaagaaaacccaaagctctaaggtaacaaattaccaaattacatgaagatttggtttttgtcttgcatttttttcctttatgtgacgctggaccttttctttacccaaggatttttaaaactcagatttaaaacaaggggttactttacatcctactaagaagtttaagtaagtaagtttcattctaaaatcagaggtaaatagagtgcataaataattttgttttaatctttttgtttttcttttagacacattagctctggagtgagtctgtcataatatttgaacaaaaattgagagctttattgctgcattttaagcataattaatttggacattatttcgtgttgtgttctttataaccaccaagtattaaactgtaaatcataatgtaactgaagcataaacatcacatggcatgttttgtcattgttttcaggtactgagttcttacttgagtatcataatatattgtgttttaacaccaacactgtaacatttacgaattatttttttaaacttcagttttactgcattttcacaacatatcagacttcaccaaatatatgccttactattgtattatagtactgctttactgtgtatctcaataaagcacgcagttatgttac
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1756 -> Molecular function: GO:0002162 [dystroglycan binding] evidence: IPI
GeneID:1756 -> Molecular function: GO:0003779 [actin binding] evidence: IDA
GeneID:1756 -> Molecular function: GO:0003779 [actin binding] evidence: TAS
GeneID:1756 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: TAS
GeneID:1756 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:1756 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:1756 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:1756 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: IDA
GeneID:1756 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: TAS
GeneID:1756 -> Molecular function: GO:0017022 [myosin binding] evidence: IDA
GeneID:1756 -> Molecular function: GO:0017166 [vinculin binding] evidence: IPI
GeneID:1756 -> Molecular function: GO:0050998 [nitric-oxide synthase binding] evidence: ISS
GeneID:1756 -> Biological process: GO:0001954 [positive regulation of cell-matrix adhesion] evidence: IEA
GeneID:1756 -> Biological process: GO:0002027 [regulation of heart rate] evidence: IMP
GeneID:1756 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:1756 -> Biological process: GO:0007517 [muscle organ development] evidence: NAS
GeneID:1756 -> Biological process: GO:0008065 [establishment of blood-nerve barrier] evidence: IEA
GeneID:1756 -> Biological process: GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] evidence: ISS
GeneID:1756 -> Biological process: GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] evidence: ISS
GeneID:1756 -> Biological process: GO:0010976 [positive regulation of neuron projection development] evidence: IMP
GeneID:1756 -> Biological process: GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] evidence: ISS
GeneID:1756 -> Biological process: GO:0014819 [regulation of skeletal muscle contraction] evidence: ISS
GeneID:1756 -> Biological process: GO:0014904 [myotube cell development] evidence: IEA
GeneID:1756 -> Biological process: GO:0021629 [olfactory nerve structural organization] evidence: IEA
GeneID:1756 -> Biological process: GO:0030049 [muscle filament sliding] evidence: TAS
GeneID:1756 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:1756 -> Biological process: GO:0033137 [negative regulation of peptidyl-serine phosphorylation] evidence: ISS
GeneID:1756 -> Biological process: GO:0034613 [cellular protein localization] evidence: IMP
GeneID:1756 -> Biological process: GO:0043043 [peptide biosynthetic process] evidence: IDA
GeneID:1756 -> Biological process: GO:0043623 [cellular protein complex assembly] evidence: ISS
GeneID:1756 -> Biological process: GO:0044458 [motile cilium assembly] evidence: TAS
GeneID:1756 -> Biological process: GO:0045213 [neurotransmitter receptor metabolic process] evidence: IEA
GeneID:1756 -> Biological process: GO:0045666 [positive regulation of neuron differentiation] evidence: IMP
GeneID:1756 -> Biological process: GO:0046716 [muscle cell homeostasis] evidence: IEA
GeneID:1756 -> Biological process: GO:0048747 [muscle fiber development] evidence: IEA
GeneID:1756 -> Biological process: GO:0051647 [nucleus localization] evidence: IEA
GeneID:1756 -> Biological process: GO:0060048 [cardiac muscle contraction] evidence: IMP
GeneID:1756 -> Biological process: GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] evidence: ISS
GeneID:1756 -> Biological process: GO:0060857 [establishment of glial blood-brain barrier] evidence: IEA
GeneID:1756 -> Biological process: GO:0086001 [regulation of cardiac muscle cell action potential] evidence: ISS
GeneID:1756 -> Biological process: GO:0090287 [regulation of cellular response to growth factor stimulus] evidence: IMP
GeneID:1756 -> Biological process: GO:1901385 [regulation of voltage-gated calcium channel activity] evidence: ISS
GeneID:1756 -> Biological process: GO:2000169 [regulation of peptidyl-cysteine S-nitrosylation] evidence: ISS
GeneID:1756 -> Biological process: GO:2000651 [positive regulation of sodium ion transmembrane transporter activity] evidence: ISS
GeneID:1756 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:1756 -> Cellular component: GO:0005634 [nucleus] evidence: TAS
GeneID:1756 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:1756 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA
GeneID:1756 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:1756 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:1756 -> Cellular component: GO:0009986 [cell surface] evidence: IDA
GeneID:1756 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: TAS
GeneID:1756 -> Cellular component: GO:0016010 [dystrophin-associated glycoprotein complex] evidence: IDA
GeneID:1756 -> Cellular component: GO:0016010 [dystrophin-associated glycoprotein complex] evidence: NAS
GeneID:1756 -> Cellular component: GO:0016010 [dystrophin-associated glycoprotein complex] evidence: TAS
GeneID:1756 -> Cellular component: GO:0030018 [Z disc] evidence: IEA
GeneID:1756 -> Cellular component: GO:0030055 [cell-substrate junction] evidence: IEA
GeneID:1756 -> Cellular component: GO:0030175 [filopodium] evidence: IDA
GeneID:1756 -> Cellular component: GO:0042383 [sarcolemma] evidence: IDA
GeneID:1756 -> Cellular component: GO:0043034 [costamere] evidence: IDA
GeneID:1756 -> Cellular component: GO:0043234 [protein complex] evidence: IDA
GeneID:1756 -> Cellular component: GO:0044306 [neuron projection terminus] evidence: IEA
GeneID:1756 -> Cellular component: GO:0045121 [membrane raft] evidence: IEA
GeneID:1756 -> Cellular component: GO:0045121 [membrane raft] evidence: TAS
GeneID:1756 -> Cellular component: GO:0045211 [postsynaptic membrane] evidence: IEA
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