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Article

Characterization of cardiac disease-associated mutations in RyR2 Ca2+- and caffeine-binding sites.

American journal of physiology. Cell physiology - 1 Apr 2026

Chirasani Venkat R, Patwardhan Akanksha, Yamaguchi Naohiro

Abstract excerpt

Cardiac Ca2+ release channels, type-2 ryanodine receptors (RyR2s), play a pivotal role in cardiac muscle contraction by releasing Ca2+ from the sarcoplasmic reticulum. Over 200 missense mutations in humans have been reported to be associated with cardiac diseases. Here, we characterize three RyR2 variants, Q3925E, W4646R, and Q4937K. Q3925E and W4646R mutations are in the Ca2+- and caffeine-binding sites,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41740622
DOI: 10.1152/ajpcell.00760.2025
PMCID: PMC13048304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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