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Results for the Protein: P06753
519668659

TPM3_HUMAN RecName: Full=Tropomyosin alpha-3 chain; AltName: Full=Gamma-tropomyosin; AltName: Full=Tropomyosin-3; AltName: Full=Tropomyosin-5; Short=hTM5

Known Diseases associated with this Protein:
  CAP MYOPATHY 1, INCLUDED
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (CFTD)
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED;;
  NEMALINE MYOPATHY 1
  NEMALINE MYOPATHY 1 (NEM1)
14
0
7
0
7
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Tropomyosin - pfam00261


Swiss-Prot Protein: P06753
Identical to: NP_689476
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tropomyosinpfam002613.6e-14749285

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070067Diseasep.ARG168CYSMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_070068Diseasep.ARG168GLYMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_070071Diseasep.ARG245GLYMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_070069Diseasep.ARG168HISNemaline myopathy 1 (NEM1)
Swiss-ProtVAR_070066Diseasep.LEU100METMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_070070Diseasep.LYS169GLUMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_013460Diseasep.MET9ARGNemaline myopathy 1 (NEM1)
OMIM191030.0009 Diseasep.ARG168CYSMYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY 1, INCLUDED
OMIM191030.0008 Diseasep.ARG168GLYMYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
OMIM191030.0005 Diseasep.ARG168HISNEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED;;||CAP MYOPATHY 1, INCLUDED
OMIM191030.0004 Diseasep.GLN32TERNEMALINE MYOPATHY 1
OMIM191030.0007 Diseasep.LEU100METMYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
OMIM191030.0001 Diseasep.MET9ARGNEMALINE MYOPATHY 1
OMIM191030.0002 Diseasep.TER286SERNEMALINE MYOPATHY 1



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