Results for the protein: Q8TD43

Results for the Protein: Q8TD43

74715868

54795

TRPM4

NCBI, UniProt

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

16

6

6

0

16

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Default View:	Swiss-Prot Protein: Q8TD43 Identical to: NP_060106 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066761	Polymorphism	p.ALA101THR	N/A
Swiss-Prot	VAR_066767	Disease	p.ALA432THR	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066765	Polymorphism	p.ARG252HIS	N/A
Swiss-Prot	VAR_066764	Disease	p.ARG164TRP	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066769	Polymorphism	p.ASP561ALA	N/A
Swiss-Prot	VAR_066766	Disease	p.GLN293ARG	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066773	Polymorphism	p.GLN854ARG	N/A
Swiss-Prot	VAR_066763	Disease	p.GLN131HIS	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_064042	Disease	p.GLU7LYS	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066772	Disease	p.GLY844ASP	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066770	Disease	p.GLY582SER	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066774	Disease	p.LYS914ARG	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066776	Polymorphism	p.PRO1204LEU	N/A
Swiss-Prot	VAR_066775	Disease	p.PRO970SER	Progressive familial heart block 1B (PFHB1B)
Swiss-Prot	VAR_066762	Polymorphism	p.TYR103CYS	N/A
Swiss-Prot	VAR_066771	Disease	p.TYR790HIS	Progressive familial heart block 1B (PFHB1B)
OMIM	606936.0002	Disease	p.ALA432THR	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM	606936.0003	Disease	p.ARG164TRP	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM	606936.0001	Disease	p.GLU7LYS	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM	606936.0004	Disease	p.GLY844ASP	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM	606936.0005	Disease	p.GLY582SER	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM	606936.0006	Disease	p.LYS914ARG	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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