STAC3
Chr 12ARSH3 and cysteine rich domain 3
Also known as: CMYO13, CMYP13, MYPBB, NAM
STAC3 encodes a protein required for normal excitation-contraction coupling in skeletal muscle by regulating calcium channel activity and calcium release from the sarcoplasmic reticulum. Mutations cause congenital myopathy 13 (also known as Native American myopathy), inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, and a GeneReviews entry provides additional clinical guidance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
STAC3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools