PMS1 (PMS1 protein homolog 1) variants and mutations

PMS1 (also known as PMS1 protein homolog 1) is a human protein-coding gene encoding a PMS1 protein homolog 1 protein. It participates in DNA mismatch repair through complexes with MLH-family proteins, although its role is less central than that of PMS2 in canonical MutLalpha activity. Germline variants have been investigated in cancer predisposition, but many reported associations remain less definitive than core Lynch-syndrome genes. This analysis covers 1,649 PMS1 variants and mutations. Of these, 66% have computational variant effect predictions. Disease context includes colorectal cancer, ovarian cancer, and Lynch syndrome. Example PMS1 variants include Q3P, Q3Q, and Q3H.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

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, MaveDB, LitVar.

Notable PMS1 variants

Examples include Q3P, Q3Q, Q3H, L4S, L4M, L4L, P5H, P5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.