Results for the protein: Q9BR39

Results for the Protein: Q9BR39

27805486

57158

JPH2

NCBI, UniProt

JPH2_HUMAN RecName: Full=Junctophilin-2; Short=JP-2; AltName: Full=Junctophilin type 2

Known Diseases associated with this Protein:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17 (CMH17)

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Default View: MORN - smart00698 MORN - pfam02493	Swiss-Prot Protein: Q9BR39 Identical to: NP_065166 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MORN	pfam02493	0.00081	129	151
MORN	pfam02493	0.0001	291	313
MORN	pfam02493	9.6e-08	314	336
MORN	smart00698	2e-06	104	125
MORN	smart00698	9.5e-05	127	148
MORN	smart00698	2.8e-07	312	333

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3810510	Polymorphism	p.ALA396THR	N/A
Swiss-Prot	VAR_065474	Polymorphism	p.ARG436CYS	N/A
Swiss-Prot	VAR_065475	Polymorphism	p.GLY505SER	N/A
Swiss-Prot	VAR_065471	Disease	p.SER101ARG	Cardiomyopathy, familial hypertrophic 17 (CMH17)
Swiss-Prot	VAR_065473	Disease	p.SER165PHE	Cardiomyopathy, familial hypertrophic 17 (CMH17)
Swiss-Prot	VAR_065472	Disease	p.TYR141HIS	Cardiomyopathy, familial hypertrophic 17 (CMH17)
OMIM	605267.0004	Disease	p.GLY505SER	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17
OMIM	605267.0001	Disease	p.SER101ARG	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17
OMIM	605267.0003	Disease	p.SER165PHE	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17
OMIM	605267.0002	Disease	p.TYR141HIS	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17

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