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Results for the Protein: NP_004000
5032287
DMD

dystrophin Dp427p1 isoform [Homo sapiens]

Known Diseases associated with this Protein:
  B-WAVE
  BECKER MUSCULAR DYSTROPHY
  CARDIOMYOPATHY, DILATED, 3B
  DUCHENNE MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG
  INTERMEDIATE MUSCULAR DYSTROPHY
41
10
41
10
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

SAC6 - COG5069
CH - cd00014
CH - pfam00307
CH - smart00033
Spectrin - pfam00435
SPEC - cd00176
SPEC - smart00150
WW - smart00456
WW - pfam00397
WW - cd00201
efhand_1 - pfam09068
efhand_2 - pfam09069
ZnF_ZZ - smart00291
ZZ - pfam00569
ZZ - cd02249
ZZ_dystrophin - cd02334


RefSeq Protein: NP_004000
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000142.2e-33131236
SPECcd001761.6e-36336554
SPECcd001767.1e-23716932
SPECcd001762e-2710451261
SPECcd001764.4e-0912631472
SPECcd001763e-0814741674
SPECcd001769.9e-3621012316
SPECcd001761.6e-2924672684
SPECcd001767.2e-3726862929
SPECcd001761.4e-2129313182
WWcd002015.6e-1230543084
ZZcd022491.5e-0633073355
ZZ_dystrophincd023343.8e-3033073355
SAC6COG50691.9e-064552
CHpfam003071.5e-2612115
CHpfam003073.1e-28131236
Spectrinpfam004358.7e-21335443
Spectrinpfam004351.7e-18444552
Spectrinpfam004351e-08826930
Spectrinpfam004352.7e-2310441150
Spectrinpfam004354.9e-1511531259
Spectrinpfam004351.7e-1215671672
Spectrinpfam004351.5e-1416751775
Spectrinpfam004354e-1118731975
Spectrinpfam004351e-2021002204
Spectrinpfam004356.2e-1622072314
Spectrinpfam004350.0004424662573
Spectrinpfam004359e-1425762682
Spectrinpfam004353.8e-0526852798
Spectrinpfam004352.6e-2029303036
WWpfam003972e-1130533082
ZZpfam005691.8e-2433033348
CHsmart000335.1e-2813113
CHsmart000331.3e-25132231
SPECsmart001504.6e-18338442
SPECsmart001503.1e-15447551
SPECsmart001509.8e-10718823
SPECsmart001505.9e-1310471149
SPECsmart001506.1e-1011561258
SPECsmart001501.9e-0812651362
SPECsmart001502.1e-0814641563
SPECsmart001508.1e-1921032203
SPECsmart001502.7e-1122102313
SPECsmart001503.3e-1724692572
SPECsmart001501.1e-0725792681
SPECsmart001501.6e-1826882797
SPECsmart001507.1e-1128042926
SPECsmart001501.1e-1529333035
WWsmart004561.1e-1130533084
efhand_1pfam090687.4e-7430833203
efhand_2pfam090692.6e-6432073298
ZnF_ZZsmart002912.9e-1733033347

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16990169 Polymorphismp.ARG2104CYSN/A
dbSNPrs1800280 Polymorphismp.ARG2933GLNN/A
dbSNPrs1801187 Polymorphismp.ARG1741HISN/A
dbSNPrs1800273 Polymorphismp.ARG2151TRPN/A
dbSNPrs1800278 Polymorphismp.ASN2908ASPN/A
dbSNPrs16990264 Polymorphismp.ASN1668LYSN/A
dbSNPrs228406 Polymorphismp.ASP878GLYN/A
dbSNPrs28715870 Polymorphismp.PHE1384VALN/A
dbSNPrs3827462 Polymorphismp.THR1132SERN/A
dbSNPrs16998350 Polymorphismp.THR711SERN/A
OMIM300377.0033 Diseasep.ALA164ASPBECKER MUSCULAR DYSTROPHY
OMIM300377.0070 Diseasep.ALA3417VALBECKER MUSCULAR DYSTROPHY
OMIM300377.0077 Diseasep.ARG1310TERBECKER MUSCULAR DYSTROPHY
OMIM300377.0032 Diseasep.ARG141TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0052 Diseasep.ARG1963TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0054 Diseasep.ARG2094TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0082 Diseasep.ARG2901TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0005 Diseasep.ARG2978TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0076 Diseasep.ARG3186TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0007 Diseasep.ARG3366TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0067 Diseasep.ARG3377TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0062 Diseasep.ASN2908ASPDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0026 Diseasep.CYS3336TYRDUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE
OMIM300377.0048 Diseasep.GLN1037TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0050 Diseasep.GLN1401TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0051 Diseasep.GLN1468TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0004 Diseasep.GLN1847TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0055 Diseasep.GLN2121TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0057 Diseasep.GLN2260TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0014 Diseasep.GLN2315TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0036 Diseasep.GLN238TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0041 Diseasep.GLN493TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0029 Diseasep.GLN56TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0023 Diseasep.GLN669TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0031 Diseasep.GLN81TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0001 Diseasep.GLU1153TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0037 Diseasep.GLU246TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0060 Diseasep.GLU2464TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0003 Diseasep.GLU927TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0061 Diseasep.GLU2906VALDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0040 Diseasep.GLY476TERINTERMEDIATE MUSCULAR DYSTROPHY
OMIM300377.0063 Diseasep.HIS2917ARGBECKER MUSCULAR DYSTROPHY
OMIM300377.0020 Diseasep.LEU50ARGDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0045 Diseasep.LYS769GLUDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0044 Diseasep.LYS766TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0064 Diseasep.SER3062TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0073 Diseasep.THR275ALACARDIOMYOPATHY, DILATED, 3B
OMIM300377.0049 Diseasep.TRP1059TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0043 Diseasep.TRP647TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0035 Diseasep.TYR227ASNBECKER MUSCULAR DYSTROPHY
OMIM300377.0084 Diseasep.TYR1991TERDUCHENNE MUSCULAR DYSTROPHY



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