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2024-04-19 03:18:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004011 9771 bp mRNA linear PRI 26-MAY-2013
DEFINITION Homo sapiens dystrophin (DMD), transcript variant Dp260-1, mRNA.
ACCESSION NM_004011
VERSION NM_004011.3 GI:238018048
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 9771)
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 9771)
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 9771)
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 9771)
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 9771)
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 9771)
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 9771)
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 9771)
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 9771)
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 9771)
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:150036267.
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 Dp260-1 uses exons 30-79, and
originates from a promoter/exon 1 sequence located in intron 29 of
the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1
encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that
replaces amino acids 1-1357 of the full-length dystrophin product
(Dp427m isoform).
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
1-93 AL109609.5 102055-102147 c
94-427 M18533.1 4280-4613
428-428 AL109609.5 79506-79506 c
429-1551 M18533.1 4615-5737
1552-1552 AL109609.5 35892-35892 c
1553-8526 M18533.1 5739-12712
8527-9771 BC028720.1 3398-4642
FEATURES Location/Qualifiers
source 1..9771
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.2"
gene 1..9771
/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="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"
misc_feature 28..30
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="upstream in-frame stop codon"
CDS 46..7080
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Dp260-1 isoform is encoded by transcript variant
Dp260-1"
/codon_start=1
/product="dystrophin Dp260-1 isoform"
/protein_id="NP_004002.2"
/db_xref="GI:150036268"
/db_xref="GeneID:1756"
/db_xref="HGNC:2928"
/db_xref="MIM:300377"
/translation="
MTEMILLIFFPAYFLNAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVQETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQEATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM
"
misc_feature 46..93
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: dystrophin Dp260-1 unique N-terminus"
misc_feature <94..5142
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: central rod domain"
misc_feature <94..123
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 9"
misc_feature 124..411
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 10"
misc_feature 403..726
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 11"
misc_feature 421..1050
/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 727..1050
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 12"
misc_feature 727..744
/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 1051..1356
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 13"
misc_feature 1132..1959
/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 1357..1644
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 14"
misc_feature 1360..1926
/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 1645..1941
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 15"
misc_feature 1648..1665
/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 1996..2325
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 16"
misc_feature 2020..2646
/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 2326..2646
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 17"
misc_feature 2326..2343
/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 2335..2982
/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 2647..2976
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 18"
misc_feature order(2647..2655,2659..2667)
/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 2977..3291
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 19"
misc_feature 3292..3432
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: hinge region 3"
misc_feature 3433..3753
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 20"
misc_feature 3436..4086
/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 3754..4080
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 21"
misc_feature 3754..3771
/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 4081..4428
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 22"
misc_feature 4090..4821
/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 4429..4815
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 23"
misc_feature 4429..4446
/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 4816..5142
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: repeat region 24"
misc_feature 4825..>5157
/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 5062..5358
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: hinge region 4"
misc_feature 5143..5157
/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 5188..5298
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: WW-domain"
misc_feature 5197..5286
/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(5236..5238,5269..5271)
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 5260..6246
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="dystroglycan binding site"
misc_feature 5320..5922
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: Cysteine-rich domain"
misc_feature 5410..5493
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: EF-hand 1"
misc_feature 5554..5640
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: EF-hand 2"
misc_feature 5920..7077
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: Carboxy-terminal region"
misc_feature 5941..6084
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: ZZ-domain"
misc_feature 5953..6099
/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(5959..5961,5968..5970,6004..6006,6013..6015,
6031..6033,6040..6042,6070..6072,6082..6084)
/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(5959..5961,5968..5970,6031..6033,6040..6042)
/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(5962..5964,5995..5997,6001..6003,6019..6021,
6025..6027)
/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(5998..6000,6043..6045,6088..6090,6097..6099)
/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(6004..6006,6013..6015,6070..6072,6082..6084)
/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 6352..6504
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="alpha1-syntrophin binding site"
misc_feature 6505..6627
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="beta1-syntrophin binding site"
misc_feature 6694..6801
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/note="Region: (Leu)6-heptad repeat"
variation 153
/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 297
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72468647"
variation 428
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:1057872"
variation 551
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72468638"
STS 554..666
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99582"
variation 899
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:72468634"
variation 999
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1801185"
variation 1062
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72468632"
variation 1185
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="g"
/db_xref="dbSNP:72468630"
variation 1256
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1801187"
STS 1433..1990
/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 1481
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800271"
variation 1552
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:1064325"
variation 1554
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:1801186"
STS 1658..1752
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99541"
variation 1797
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800272"
variation 2050
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="g"
/replace="t"
/db_xref="dbSNP:72468613"
STS 2314..2438
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99225"
variation 2485
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800273"
STS 2688..2770
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99066"
variation 2850
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72466595"
variation 3102
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800274"
variation 3118
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:1800275"
variation 3205
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466590"
STS 3386..3497
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS7499"
/db_xref="UniSTS:30753"
variation 3750
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1801188"
variation 3842
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:72466581"
STS 3907..4042
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99382"
variation 4077
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1801189"
STS 4249..4348
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99545"
variation 4344
/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 4518
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:72466574"
variation 4593
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72466570"
variation 4601
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:72466569"
variation 4832
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1800280"
STS 4843..4945
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99400"
variation 4874
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466567"
variation 5115
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:72466563"
variation 5116
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466562"
STS 5594..5661
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:99128"
variation 6642
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:72466538"
variation 6811
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800281"
variation 7040
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1795743"
STS 7162..7355
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="PMC316713P2"
/db_xref="UniSTS:273040"
STS 7430..7618
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="G15848"
/db_xref="UniSTS:3168"
STS 7471..7603
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS1234"
/db_xref="UniSTS:146800"
variation 7560..7561
/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 8004
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="acaa"
/db_xref="dbSNP:72466531"
variation 8048
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="t"
/db_xref="dbSNP:72466530"
STS 8086..8154
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS503"
/db_xref="UniSTS:99031"
variation 8128
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="gat"
/db_xref="dbSNP:72466529"
variation 8325
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="cttt"
/db_xref="dbSNP:72466527"
STS 8392..8542
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DXS6988E"
/db_xref="UniSTS:32060"
variation 8527
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:3361"
STS 8548..8648
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="A002S20"
/db_xref="UniSTS:57879"
variation 8645
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="aaag"
/db_xref="dbSNP:72466526"
variation 8671
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="tgtt"
/db_xref="dbSNP:72466525"
variation 8811
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:3198427"
variation 8838
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="ttcat"
/db_xref="dbSNP:72466524"
variation 9119
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="c"
/db_xref="dbSNP:72466523"
variation 9233
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="atgtgacgctggacctt"
/db_xref="dbSNP:72466522"
variation 9265
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="t"
/db_xref="dbSNP:11550191"
variation 9317
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="aagt"
/db_xref="dbSNP:72466521"
STS 9398..9589
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="DMD"
/db_xref="UniSTS:506537"
variation 9507
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057915"
STS 9655..9739
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/standard_name="PMC108984P1"
/db_xref="UniSTS:270148"
variation 9661
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
/replace=""
/replace="actt"
/db_xref="dbSNP:72466520"
polyA_signal 9749..9754
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
polyA_site 9771
/gene="DMD"
/gene_synonym="BMD; CMD3B; DXS142; DXS164; DXS206; DXS230;
DXS239; DXS268; DXS269; DXS270; DXS272"
ORIGIN
taatgagatcaggaggaacattcgacctgagaaagacagattgcaatgactgagatgattttgctaattttttttccagcctatttccttaatgctgtaaggaggcaaaagttgcttgaacagagcatccagtctgcccaggagactgaaaaatccttacacttaatccaggagtccctcacattcattgacaagcagttggcagcttatattgcagacaaggtggacgcagctcaaatgcctcaggaagcccagaaaatccaatctgatttgacaagtcatgagatcagtttagaagaaatgaagaaacataatcaggggaaggaggctgcccaaagagtcctgtctcagattgatgttgcacagaaaaaattacaagatgtctccatgaagtttcgattattccagaaaccagccaattttgagcagcgtctacaagaaagtaagatgattttagatgaagtgaagatgcacttgcctgcattggaaacaaagagtgtggaacaggaagtagtacagtcacagctaaatcattgtgtgaacttgtataaaagtctgagtgaagtgaagtctgaagtggaaatggtgataaagactggacgtcagattgtacagaaaaagcagacggaaaatcccaaagaacttgatgaaagagtaacagctttgaaattgcattataatgagctgggagcaaaggtaacagaaagaaagcaacagttggagaaatgcttgaaattgtcccgtaagatgcgaaaggaaatgaatgtcttgacagaatggctggcagctacagatatggaattgacaaagagatcagcagttgaaggaatgcctagtaatttggattctgaagttgcctggggaaaggctactcaaaaagagattgagaaacagaaggtgcacctgaagagtatcacagaggtaggagaggccttgaaaacagttttgggcaagaaggagacgttggtggaagataaactcagtcttctgaatagtaactggatagctgtcacctcccgagcagaagagtggttaaatcttttgttggaataccagaaacacatggaaacttttgaccagaatgtggaccacatcacaaagtggatcattcaggctgacacacttttggatgaatcagagaaaaagaaaccccagcaaaaagaagacgtgcttaagcgtttaaaggcagaactgaatgacatacgcccaaaggtggactctacacgtgaccaagcagcaaacttgatggcaaaccgcggtgaccactgcaggaaattagtagagccccaaatctcagagctcaaccatcgatttgcagccatttcacacagaattaagactggaaaggcctccattcctttgaaggaattggagcagtttaactcagatatacaaaaattgcttgaaccactggaggctgaaattcagcagggggtgaatctgaaagaggaagacttcaataaagatatgaatgaagacaatgagggtactgtaaaagaattgttgcaaagaggagacaacttacaacaaagaatcacagatgagagaaagcgagaggaaataaagataaaacagcagctgttacagacaaaacataatgctctcaaggatttgaggtctcaaagaagaaaaaaggctctagaaatttctcatcagtggtatcagtacaagaggcaggctgatgatctcctgaaatgcttggatgacattgaaaaaaaattagccagcctacctgagcccagagatgaaaggaaaataaaggaaattgatcgggaattgcagaagaagaaagaggagctgaatgcagtgcgtaggcaagctgagggcttgtctgaggatggggccgcaatggcagtggagccaactcagatccagctcagcaagcgctggcgggaaattgagagcaaatttgctcagtttcgaagactcaactttgcacaaattcacactgtccgtgaagaaacgatgatggtgatgactgaagacatgcctttggaaatttcttatgtgccttctacttatttgactgaaatcactcatgtctcacaagccctattagaagtggaacaacttctcaatgctcctgacctctgtgctaaggactttgaagatctctttaagcaagaggagtctctgaagaatataaaagatagtctacaacaaagctcaggtcggattgacattattcatagcaagaagacagcagcattgcaaagtgcaacgcctgtggaaagggtgaagctacaggaagctctctcccagcttgatttccaatgggaaaaagttaacaaaatgtacaaggaccgacaagggcgatttgacagatctgttgagaaatggcggcgttttcattatgatataaagatatttaatcagtggctaacagaagctgaacagtttctcagaaagacacaaattcctgagaattgggaacatgctaaatacaaatggtatcttaaggaactccaggatggcattgggcagcggcaaactgttgtcagaacattgaatgcaactggggaagaaataattcagcaatcctcaaaaacagatgccagtattctacaggaaaaattgggaagcctgaatctgcggtggcaggaggtctgcaaacagctgtcagacagaaaaaagaggctagaagaacaaaagaatatcttgtcagaatttcaaagagatttaaatgaatttgttttatggttggaggaagcagataacattgctagtatcccacttgaacctggaaaagagcagcaactaaaagaaaagcttgagcaagtcaagttactggtggaagagttgcccctgcgccagggaattctcaaacaattaaatgaaactggaggacccgtgcttgtaagtgctcccataagcccagaagagcaagataaacttgaaaataagctcaagcagacaaatctccagtggataaaggtttccagagctttacctgagaaacaaggagaaattgaagctcaaataaaagaccttgggcagcttgaaaaaaagcttgaagaccttgaagagcagttaaatcatctgctgctgtggttatctcctattaggaatcagttggaaatttataaccaaccaaaccaagaaggaccatttgacgttcaggaaactgaaatagcagttcaagctaaacaaccggatgtggaagagattttgtctaaagggcagcatttgtacaaggaaaaaccagccactcagccagtgaagaggaagttagaagatctgagctctgagtggaaggcggtaaaccgtttacttcaagagctgagggcaaagcagcctgacctagctcctggactgaccactattggagcctctcctactcagactgttactctggtgacacaacctgtggttactaaggaaactgccatctccaaactagaaatgccatcttccttgatgttggaggtacctgctctggcagatttcaaccgggcttggacagaacttaccgactggctttctctgcttgatcaagttataaaatcacagagggtgatggtgggtgaccttgaggatatcaacgagatgatcatcaagcagaaggcaacaatgcaggatttggaacagaggcgtccccagttggaagaactcattaccgctgcccaaaatttgaaaaacaagaccagcaatcaagaggctagaacaatcattacggatcgaattgaaagaattcagaatcagtgggatgaagtacaagaacaccttcagaaccggaggcaacagttgaatgaaatgttaaaggattcaacacaatggctggaagctaaggaagaagctgagcaggtcttaggacaggccagagccaagcttgagtcatggaaggagggtccctatacagtagatgcaatccaaaagaaaatcacagaaaccaagcagttggccaaagacctccgccagtggcagacaaatgtagatgtggcaaatgacttggccctgaaacttctccgggattattctgcagatgataccagaaaagtccacatgataacagagaatatcaatgcctcttggagaagcattcataaaagggtgagtgagcgagaggctgctttggaagaaactcatagattactgcaacagttccccctggacctggaaaagtttcttgcctggcttacagaagctgaaacaactgccaatgtcctacaggatgctacccgtaaggaaaggctcctagaagactccaagggagtaaaagagctgatgaaacaatggcaagacctccaaggtgaaattgaagctcacacagatgtttatcacaacctggatgaaaacagccaaaaaatcctgagatccctggaaggttccgatgatgcagtcctgttacaaagacgtttggataacatgaacttcaagtggagtgaacttcggaaaaagtctctcaacattaggtcccatttggaagccagttctgaccagtggaagcgtctgcacctttctctgcaggaacttctggtgtggctacagctgaaagatgatgaattaagccggcaggcacctattggaggcgactttccagcagttcagaagcagaacgatgtacatagggccttcaagagggaattgaaaactaaagaacctgtaatcatgagtactcttgagactgtacgaatatttctgacagagcagcctttggaaggactagagaaactctaccaggagcccagagagctgcctcctgaggagagagcccagaatgtcactcggcttctacgaaagcaggctgaggaggtcaatactgagtgggaaaaattgaacctgcactccgctgactggcagagaaaaatagatgagacccttgaaagactccaggaacttcaagaggccacggatgagctggacctcaagctgcgccaagctgaggtgatcaagggatcctggcagcccgtgggcgatctcctcattgactctctccaagatcacctcgagaaagtcaaggcacttcgaggagaaattgcgcctctgaaagagaacgtgagccacgtcaatgaccttgctcgccagcttaccactttgggcattcagctctcaccgtataacctcagcactctggaagacctgaacaccagatggaagcttctgcaggtggccgtcgaggaccgagtcaggcagctgcatgaagcccacagggactttggtccagcatctcagcactttctttccacgtctgtccagggtccctgggagagagccatctcgccaaacaaagtgccctactatatcaaccacgagactcaaacaacttgctgggaccatcccaaaatgacagagctctaccagtctttagctgacctgaataatgtcagattctcagcttataggactgccatgaaactccgaagactgcagaaggccctttgcttggatctcttgagcctgtcagctgcatgtgatgccttggaccagcacaacctcaagcaaaatgaccagcccatggatatcctgcagattattaattgtttgaccactatttatgaccgcctggagcaagagcacaacaatttggtcaacgtccctctctgcgtggatatgtgtctgaactggctgctgaatgtttatgatacgggacgaacagggaggatccgtgtcctgtcttttaaaactggcatcatttccctgtgtaaagcacatttggaagacaagtacagataccttttcaagcaagtggcaagttcaacaggattttgtgaccagcgcaggctgggcctccttctgcatgattctatccaaattccaagacagttgggtgaagttgcatcctttgggggcagtaacattgagccaagtgtccggagctgcttccaatttgctaataataagccagagatcgaagcggccctcttcctagactggatgagactggaaccccagtccatggtgtggctgcccgtcctgcacagagtggctgctgcagaaactgccaagcatcaggccaaatgtaacatctgcaaagagtgtccaatcattggattcaggtacaggagtctaaagcactttaattatgacatctgccaaagctgctttttttctggtcgagttgcaaaaggccataaaatgcactatcccatggtggaatattgcactccgactacatcaggagaagatgttcgagactttgccaaggtactaaaaaacaaatttcgaaccaaaaggtattttgcgaagcatccccgaatgggctacctgccagtgcagactgtcttagagggggacaacatggaaactcccgttactctgatcaacttctggccagtagattctgcgcctgcctcgtcccctcagctttcacacgatgatactcattcacgcattgaacattatgctagcaggctagcagaaatggaaaacagcaatggatcttatctaaatgatagcatctctcctaatgagagcatagatgatgaacatttgttaatccagcattactgccaaagtttgaaccaggactcccccctgagccagcctcgtagtcctgcccagatcttgatttccttagagagtgaggaaagaggggagctagagagaatcctagcagatcttgaggaagaaaacaggaatctgcaagcagaatatgaccgtctaaagcagcagcacgaacataaaggcctgtccccactgccgtcccctcctgaaatgatgcccacctctccccagagtccccgggatgctgagctcattgctgaggccaagctactgcgtcaacacaaaggccgcctggaagccaggatgcaaatcctggaagaccacaataaacagctggagtcacagttacacaggctaaggcagctgctggagcaaccccaggcagaggccaaagtgaatggcacaacggtgtcctctccttctacctctctacagaggtccgacagcagtcagcctatgctgctccgagtggttggcagtcaaacttcggactccatgggtgaggaagatcttctcagtcctccccaggacacaagcacagggttagaggaggtgatggagcaactcaacaactccttccctagttcaagaggaagaaatacccctggaaagccaatgagagaggacacaatgtaggaagtcttttccacatggcagatgatttgggcagagcgatggagtccttagtatcagtcatgacagatgaagaaggagcagaataaatgttttacaactcctgattcccgcatggtttttataatattcatacaacaaagaggattagacagtaagagtttacaagaaataaatctatatttttgtgaagggtagtggtattatactgtagatttcagtagtttctaagtctgttattgttttgttaacaatggcaggttttacacgtctatgcaattgtacaaaaaagttataagaaaactacatgtaaaatcttgatagctaaataacttgccatttctttatatggaacgcattttgggttgtttaaaaatttataacagttataaagaaagattgtaaactaaagtgtgctttataaaaaaaagttgtttataaaaacccctaaaaacaaaacaaacacacacacacacacatacacacacacacacaaaactttgaggcagcgcattgttttgcatccttttggcgtgatatccatatgaaattcatggctttttctttttttgcatattaaagataagacttcctctaccaccacaccaaatgactactacacactgctcatttgagaactgtcagctgagtggggcaggcttgagttttcatttcatatatctatatgtctataagtatataaatactatagttatatagataaagagatacgaatttctatagactgactttttccattttttaaatgttcatgtcacatcctaatagaaagaaattacttctagtcagtcatccaggcttacctgcttggtctagaatggatttttcccggagccggaagccaggaggaaactacaccacactaaaacattgtctacagctccagatgtttctcattttaaacaactttccactgacaacgaaagtaaagtaaagtattggatttttttaaagggaacatgtgaatgaatacacaggacttattatatcagagtgagtaatcggttggttggttgattgattgattgattgatacattcagcttcctgctgctagcaatgccacgatttagatttaatgatgcttcagtggaaatcaatcagaaggtattctgaccttgtgaacatcagaaggtattttttaactcccaagcagtagcaggacgatgatagggctggagggctatggattcccagcccatccctgtgaaggagtaggccactctttaagtgaaggattggatgattgttcataatacataaagttctctgtaattacaactaaattattatgccctcttctcacagtcaaaaggaactgggtggtttggtttttgttgcttttttagatttattgtcccatgtgggatgagtttttaaatgccacaagacataatttaaaataaataaactttgggaaaaggtgtaaaacagtagccccatcacatttgtgatactgacaggtatcaacccagaagcccatgaactgtgtttccatcctttgcatttctctgcgagtagttccacacaggtttgtaagtaagtaagaaagaaggcaaattgattcaaatgttacaaaaaaacccttcttggtggattagacaggttaaatatataaacaaacaaacaaaaattgctcaaaaaagaggagaaaagctcaagaggaaaagctaaggactggtaggaaaaagctttactctttcatgccattttatttctttttgatttttaaatcattcattcaatagataccaccgtgtgacctataattttgcaaatctgttacctctgacatcaagtgtaattagcttttggagagtgggctgacatcaagtgtaattagcttttggagagtgggttttgtccattattaataattaattaattaacatcaaacacggcttctcatgctatttctacctcactttggttttggggtgttcctgataattgtgcacacctgagttcacagcttcaccacttgtccattgcgttattttctttttcctttataattctttctttttccttcataattttcaaaagaaaacccaaagctctaaggtaacaaattaccaaattacatgaagatttggtttttgtcttgcatttttttcctttatgtgacgctggaccttttctttacccaaggatttttaaaactcagatttaaaacaaggggttactttacatcctactaagaagtttaagtaagtaagtttcattctaaaatcagaggtaaatagagtgcataaataattttgttttaatctttttgtttttcttttagacacattagctctggagtgagtctgtcataatatttgaacaaaaattgagagctttattgctgcattttaagcataattaatttggacattatttcgtgttgtgttctttataaccaccaagtattaaactgtaaatcataatgtaactgaagcataaacatcacatggcatgttttgtcattgttttcaggtactgagttcttacttgagtatcataatatattgtgttttaacaccaacactgtaacatttacgaattatttttttaaacttcagttttactgcattttcacaacatatcagacttcaccaaatatatgccttactattgtattatagtactgctttactgtgtatctcaataaagcacgcagttatgttac
//
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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