ANKRD1 (Q15327) variants and mutations

ANKRD1 (also known as Q15327) is a human protein-coding gene encoding an ankyrin repeat domain-containing protein 1 protein. It localizes to the cardiac sarcomere and nucleus, where it participates in mechanosensing and stress-responsive transcription. Rare pathogenic variants have been associated with dilated and hypertrophic cardiomyopathy, although penetrance and variant-specific evidence can vary. This analysis covers 605 ANKRD1 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes familial isolated dilated cardiomyopathy, alcohol drinking, and tooth disorder. Example ANKRD1 variants include M1I, M1V, and M2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ANKRD1 variants

Examples include M1I, M1V, M2T, V3A, K5Q, E7D, E8K, V10F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.