Condition: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17
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.