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Results for the Protein: P09493
136092

TPM1_HUMAN RecName: Full=Tropomyosin alpha-1 chain; AltName: Full=Alpha-tropomyosin; AltName: Full=Tropomyosin-1

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1Y (CMD1Y)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 3 (CMH3)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
  LEFT VENTRICULAR NON-COMPACTION 9 (LVNC9)
  LEFT VENTRICULAR NONCOMPACTION 9
13
0
5
0
8
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Tropomyosin - pfam00261


Swiss-Prot Protein: P09493
Identical to: NP_001018005
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tropomyosinpfam002612.9e-14548284

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013135Diseasep.ALA63VALCardiomyopathy, familial hypertrophic 3 (CMH3)
Swiss-ProtVAR_007601Diseasep.ASP175ASNCardiomyopathy, familial hypertrophic 3 (CMH3)
Swiss-ProtVAR_007602Diseasep.GLU180GLYCardiomyopathy, familial hypertrophic 3 (CMH3)
Swiss-ProtVAR_070121Diseasep.GLU192LYSLeft ventricular non-compaction 9 (LVNC9)
Swiss-ProtVAR_043986Diseasep.GLU40LYSCardiomyopathy, dilated 1Y (CMD1Y)
Swiss-ProtVAR_043987Diseasep.GLU54LYSCardiomyopathy, dilated 1Y (CMD1Y)
Swiss-ProtVAR_029452Diseasep.GLU180VALCardiomyopathy, familial hypertrophic 3 (CMH3)
Swiss-ProtVAR_070122Diseasep.LYS248GLULeft ventricular non-compaction 9 (LVNC9)
OMIM191010.0002 Diseasep.ASP175ASNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
OMIM191010.0001 Diseasep.GLU180GLYCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
OMIM191010.0007 Diseasep.GLU192LYSLEFT VENTRICULAR NONCOMPACTION 9
OMIM191010.0006 Diseasep.LYS248GLULEFT VENTRICULAR NONCOMPACTION 9
OMIM191010.0003 Diseasep.VAL95ALACARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3



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