Variant: rs387906897 

    present in Gene: JPH2
    present in Chromosome: 20
    Position on Chromosome: 44160366
    Alleles of this Variant: A/G

rs387906897 in JPH2 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 PMID 17509612 2007 Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

PMID 24001019 2013 Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

PMID 30235249 2018 Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

PMID 28393127 2017 Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.