Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_003997
5032283
DMD

dystrophin Dp427m 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
42
10
42
10
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 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_dystrophin - cd02334
ZZ - cd02249


RefSeq Protein: NP_003997
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000142.2e-33135240
SPECcd001761.6e-36340558
SPECcd001767.1e-23720936
SPECcd001762e-2710491265
SPECcd001764.4e-0912671476
SPECcd001763e-0814781678
SPECcd001769.9e-3621052320
SPECcd001761.6e-2924712688
SPECcd001767.2e-3726902933
SPECcd001761.4e-2129353186
WWcd002015.6e-1230583088
ZZ_dystrophincd023343.8e-3033113359
ZZcd022491.5e-0633113359
SAC6COG50691.8e-068556
CHpfam003071.5e-2616119
CHpfam003073.1e-28135240
Spectrinpfam004358.7e-21339447
Spectrinpfam004351.7e-18448556
Spectrinpfam004351e-08830934
Spectrinpfam004352.7e-2310481154
Spectrinpfam004354.9e-1511571263
Spectrinpfam004351.7e-1215711676
Spectrinpfam004351.5e-1416791779
Spectrinpfam004354e-1118771979
Spectrinpfam004351e-2021042208
Spectrinpfam004356.2e-1622112318
Spectrinpfam004350.0004424702577
Spectrinpfam004359e-1425802686
Spectrinpfam004353.8e-0526892802
Spectrinpfam004352.6e-2029343040
WWpfam003972e-1130573086
ZZpfam005691.8e-2433073352
CHsmart000335.1e-2817117
CHsmart000331.3e-25136235
SPECsmart001504.6e-18342446
SPECsmart001503.1e-15451555
SPECsmart001509.8e-10722827
SPECsmart001505.9e-1310511153
SPECsmart001506.1e-1011601262
SPECsmart001501.9e-0812691366
SPECsmart001502.1e-0814681567
SPECsmart001508.1e-1921072207
SPECsmart001502.7e-1122142317
SPECsmart001503.3e-1724732576
SPECsmart001501.1e-0725832685
SPECsmart001501.6e-1826922801
SPECsmart001507.1e-1128082930
SPECsmart001501.1e-1529373039
WWsmart004561.1e-1130573088
efhand_1pfam090687.4e-7430873207
efhand_2pfam090692.6e-6432113302
ZnF_ZZsmart002912.9e-1733073351

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16990169 Polymorphismp.ARG2108CYSN/A
dbSNPrs1800280 Polymorphismp.ARG2937GLNN/A
dbSNPrs1801187 Polymorphismp.ARG1745HISN/A
dbSNPrs1800273 Polymorphismp.ARG2155TRPN/A
dbSNPrs1800278 Polymorphismp.ASN2912ASPN/A
dbSNPrs16990264 Polymorphismp.ASN1672LYSN/A
dbSNPrs228406 Polymorphismp.ASP882GLYN/A
dbSNPrs28715870 Polymorphismp.PHE1388VALN/A
dbSNPrs3827462 Polymorphismp.THR1136SERN/A
dbSNPrs16998350 Polymorphismp.THR715SERN/A
OMIM300377.0033 Diseasep.ALA168ASPBECKER MUSCULAR DYSTROPHY
OMIM300377.0070 Diseasep.ALA3421VALBECKER MUSCULAR DYSTROPHY
OMIM300377.0077 Diseasep.ARG1314TERBECKER MUSCULAR DYSTROPHY
OMIM300377.0032 Diseasep.ARG145TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0052 Diseasep.ARG1967TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0054 Diseasep.ARG2098TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0082 Diseasep.ARG2905TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0005 Diseasep.ARG2982TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0076 Diseasep.ARG3190TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0007 Diseasep.ARG3370TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0067 Diseasep.ARG3381TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0062 Diseasep.ASN2912ASPDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0026 Diseasep.CYS3340TYRDUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE
OMIM300377.0048 Diseasep.GLN1041TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0050 Diseasep.GLN1405TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0051 Diseasep.GLN1472TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0004 Diseasep.GLN1851TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0055 Diseasep.GLN2125TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0057 Diseasep.GLN2264TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0014 Diseasep.GLN2319TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0036 Diseasep.GLN242TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0041 Diseasep.GLN497TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0029 Diseasep.GLN60TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0023 Diseasep.GLN673TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0031 Diseasep.GLN85TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0001 Diseasep.GLU1157TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0060 Diseasep.GLU2468TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0037 Diseasep.GLU250TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0003 Diseasep.GLU931TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0061 Diseasep.GLU2910VALDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0040 Diseasep.GLY480TERINTERMEDIATE MUSCULAR DYSTROPHY
OMIM300377.0063 Diseasep.HIS2921ARGBECKER MUSCULAR DYSTROPHY
OMIM300377.0020 Diseasep.LEU54ARGDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0045 Diseasep.LYS773GLUDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0044 Diseasep.LYS770TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0064 Diseasep.SER3066TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0073 Diseasep.THR279ALACARDIOMYOPATHY, DILATED, 3B
OMIM300377.0049 Diseasep.TRP1063TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0086 Diseasep.TRP3TERBECKER MUSCULAR DYSTROPHY
OMIM300377.0043 Diseasep.TRP651TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0035 Diseasep.TYR231ASNBECKER MUSCULAR DYSTROPHY
OMIM300377.0084 Diseasep.TYR1995TERDUCHENNE MUSCULAR DYSTROPHY



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258