H29D (p.His29Asp) variant of RYR2 (Ryanodine receptor 2)
H29D (p.His29Asp) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The record also includes variant effect predictions, published literature, and structural context.
H29D (p.His29Asp) variant details
- p.His29Asp
- UniProt VAR 075283
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- MetaLR 0.87
- MetaSVM 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: leaky… (PMID 25463374)
- Cited in: The H29D Mutation Does Not Enhance Cytosolic Ca2+ Activation of the Cardiac Ryanodine Receptor. (PMID 26405799)