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Results for the Protein: P45379
21264536

TNNT2_HUMAN RecName: Full=Troponin T, cardiac muscle; Short=TnTc; AltName: Full=Cardiac muscle troponin T; Short=cTnT

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1D (CMD1D)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 2 (CMH2)
21
7
0
0
28
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Swiss-Prot Protein: P45379
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016197Diseasep.ALA114VALCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_067259Diseasep.ALA38VALCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_042747Diseasep.ARG140CYSCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_007612Diseasep.ARG288CYSCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_019880Diseasep.ARG296CYSCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_007606Diseasep.ARG102GLNCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_016195Diseasep.ARG102LEUCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_009194Diseasep.ARG104LEUCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_043984Diseasep.ARG215LEUCardiomyopathy, dilated 1D (CMD1D)
Swiss-ProtVAR_013021Polymorphismp.ARG139LYSN/A
Swiss-ProtVAR_029450Polymorphismp.ARG140LYSN/A
Swiss-ProtVAR_007613Diseasep.ARG288PROCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_016196Diseasep.ARG102TRPCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_043983Diseasep.ARG141TRPCardiomyopathy, dilated 1D (CMD1D)
Swiss-ProtVAR_016198Diseasep.ARG151TRPCardiomyopathy, dilated 1D (CMD1D)
Swiss-ProtVAR_019879Diseasep.ASN281ILECardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_029451Polymorphismp.ASN279TYRN/A
Swiss-ProtVAR_007610Diseasep.GLU254ASPCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_007609Diseasep.GLU173LYSCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_007605Diseasep.ILE89ASNCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_042748Polymorphismp.ILE221THRN/A
Swiss-ProtVAR_057310Polymorphismp.ILE231THRN/A
Swiss-ProtVAR_007611Polymorphismp.LYS263ARGN/A
Swiss-ProtVAR_007607Diseasep.PHE120ILECardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_019877Diseasep.PHE80LEUCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_019878Diseasep.PHE120VALCardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_016199Diseasep.SER189PHECardiomyopathy, familial hypertrophic 2 (CMH2)
Swiss-ProtVAR_013022Polymorphismp.SER249THRN/A



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