MYH13
Chr 17myosin heavy chain 13
Also known as: MyHC-IIL, MyHC-eo
The protein is a fast-twitching myosin that mediates high-velocity, low-tension contractions in specific striated muscles through actin filament binding and motor activity. Mutations in MYH13 cause autosomal dominant distal arthrogryposis type 2B (Freeman-Sheldon syndrome), characterized by congenital contractures affecting the hands and feet along with distinctive facial features. This gene shows low constraint against loss-of-function variants, suggesting the clinical phenotype may not result from simple protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYH13 · 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