RYR3

Chr 15AR

ryanodine receptor 3

Also known as: CMYO20, CMYP20, RYR-3

NCBI Gene: 6263 ENSG00000198838 UniProt: Q15413 OMIM: 180903

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital myopathy 20MIM #620310

Clinical highlights

Gene–disease validity (ClinGen)

not for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RYR3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 11

6,067 rare PASS variants

Rare truncating (LoF)

1 in 540

443 rare PASS variants

Rare synonymous (reference)

1 in 18

2,575 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RYR3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 66 of 104 coding exons well covered in gnomAD exomes; exon 82 poorly covered; exons 1, 3, 4, 6, 8 and 32 more marginal. Genomes: 101 of 104 (exons 78, 82, 84 below).? see exons ↓