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Results for the Protein: P10916
6166556

MLRV_HUMAN RecName: Full=Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; Short=MLC-2; Short=MLC-2v

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 10 (CMH10)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
11
1
5
0
7
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EFh - smart00054


Swiss-Prot Protein: P10916
Identical to: NP_000423
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004601Diseasep.ALA13THRCardiomyopathy, familial hypertrophic 10 (CMH10)
Swiss-ProtVAR_004604Diseasep.ARG58GLNCardiomyopathy, familial hypertrophic 10 (CMH10)
Swiss-ProtVAR_019844Diseasep.ASP166VALCardiomyopathy, familial hypertrophic 10 (CMH10)
Swiss-ProtVAR_004603Diseasep.GLU22LYSCardiomyopathy, familial hypertrophic 10 (CMH10)
Swiss-ProtVAR_029449Polymorphismp.GLY57ARGN/A
Swiss-ProtVAR_004602Diseasep.PHE18LEUCardiomyopathy, familial hypertrophic 10 (CMH10)
Swiss-ProtVAR_004605Diseasep.PRO95ALACardiomyopathy, familial hypertrophic 10 (CMH10)
OMIM160781.0001 Diseasep.ALA13THRCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
OMIM160781.0004 Diseasep.ARG58GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
OMIM160781.0002 Diseasep.GLU22LYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
OMIM160781.0005 Diseasep.PHE18LEUCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
OMIM160781.0003 Diseasep.PRO94ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10



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