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Results for the Protein: P50461
1705933

CSRP3_HUMAN RecName: Full=Cysteine and glycine-rich protein 3; AltName: Full=Cardiac LIM protein; AltName: Full=Cysteine-rich protein 3; Short=CRP3; AltName: Full=LIM domain protein, cardiac; AltName: Full=Muscle LIM protein

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1M (CMD1M)
  CARDIOMYOPATHY, DILATED, 1M
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 12 (CMH12)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
10
0
7
0
3
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LIM - smart00132


Swiss-Prot Protein: P50461
Identical to: NP_003467
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LIMsmart001327e-08946
LIMsmart001324.2e-13119156

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_045934Diseasep.CYS58GLYCardiomyopathy, familial hypertrophic 12 (CMH12)
Swiss-ProtVAR_045932Diseasep.LEU44PROCardiomyopathy, familial hypertrophic 12 (CMH12)
Swiss-ProtVAR_015401Diseasep.TRP4ARGCardiomyopathy, dilated 1M (CMD1M)
OMIM600824.0002 Diseasep.CYS58GLYCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
OMIM600824.0004 Diseasep.GLU55GLYCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
OMIM600824.0003 Diseasep.LEU44PROCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
OMIM600824.0005 Diseasep.LYS69ARGCARDIOMYOPATHY, DILATED, 1M
OMIM600824.0006 Diseasep.SER46ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
OMIM600824.0004 Diseasep.SER54ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
OMIM600824.0001 Diseasep.TRP4ARGCARDIOMYOPATHY, DILATED, 1M



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