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Results for the Protein: Q8TD43
74715868

TRPM4_HUMAN RecName: Full=Transient receptor potential cation channel subfamily M member 4; Short=hTRPM4; AltName: Full=Calcium-activated non-selective cation channel 1; AltName: Full=Long transient receptor potential channel 4; Short=LTrpC-4; Short=LTrpC4; AltName: Full=Melastatin-4

Known Diseases associated with this Protein:
  PROGRESSIVE FAMILIAL HEART BLOCK 1B (PFHB1B)
  PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
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6
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0
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Swiss-Prot Protein: Q8TD43
Identical to: NP_060106
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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_066761Polymorphismp.ALA101THRN/A
Swiss-ProtVAR_066767Diseasep.ALA432THRProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066765Polymorphismp.ARG252HISN/A
Swiss-ProtVAR_066764Diseasep.ARG164TRPProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066769Polymorphismp.ASP561ALAN/A
Swiss-ProtVAR_066766Diseasep.GLN293ARGProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066773Polymorphismp.GLN854ARGN/A
Swiss-ProtVAR_066763Diseasep.GLN131HISProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_064042Diseasep.GLU7LYSProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066772Diseasep.GLY844ASPProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066770Diseasep.GLY582SERProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066774Diseasep.LYS914ARGProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066776Polymorphismp.PRO1204LEUN/A
Swiss-ProtVAR_066775Diseasep.PRO970SERProgressive familial heart block 1B (PFHB1B)
Swiss-ProtVAR_066762Polymorphismp.TYR103CYSN/A
Swiss-ProtVAR_066771Diseasep.TYR790HISProgressive familial heart block 1B (PFHB1B)
OMIM606936.0002 Diseasep.ALA432THRPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM606936.0003 Diseasep.ARG164TRPPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM606936.0001 Diseasep.GLU7LYSPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM606936.0004 Diseasep.GLY844ASPPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM606936.0005 Diseasep.GLY582SERPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM606936.0006 Diseasep.LYS914ARGPROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB



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