MYPN
Chr 10ADARmyopalladin
Also known as: CMD1DD, CMH22, CMYO24, CMYP24, MYOP, NEM11, RCM4
Myopalladin is a sarcomere component that tethers nebulin (in skeletal muscle) and nebulette (in cardiac muscle) to alpha-actinin at the Z-lines. Mutations cause various cardiomyopathies (dilated, restrictive, and hypertrophic) and congenital myopathy, with both autosomal dominant and autosomal recessive inheritance patterns. The gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.
Definitive — sufficient evidence for diagnostic panels
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
MYPN · 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