rs193922747
This is a variant in the RYR1 gene that changes a cysteine to an arginine.
▶ClinVar annotation
Malignant hyperthermia, susceptibility to, 1 (MHS1); RYR1-related disorder; desflurane response - Toxicity; enflurane response - Toxicity; halothane response - Toxicity; isoflurane response - Toxicity; methoxyflurane response - Toxicity; sevoflurane response - Toxicity; succinylcholine response - Toxicity
View on ClinVar →▶Research that mentions this SNP (1)
▶A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneReviewAna Ferreiro et al.(2002)· Annals of Neurology
A comprehensive clinical and genetic review of central core disease (CCD), an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of congenital myopathy. The paper establishes that both CCD and malignant hyperthermia susceptibility (MHS) are allelic conditions caused predominantly by dominant mutations in the RYR1 gene (>80 mutations identified), with genotype-phenotype correlations showing C-terminal RYR1 mutations predominantly associated with CCD phenotype. Key mutations identified include Arg4861Cys (found in three unrelated families) and recessive mutations in severe neonatal presentations with fetal akinesia.
About RYR1
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
View all RYR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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