MUC1 (Mucin-1) variants and mutations

MUC1 (also known as Mucin-1) is a human protein-coding gene encoding a mucin-1 protein. It forms a heavily glycosylated protective barrier on the apical surface of many epithelia and also participates in intracellular signaling. A specific frameshift mechanism causes autosomal dominant tubulointerstitial kidney disease, while overexpression and abnormal glycosylation are common in carcinomas. This analysis covers 16 MUC1 variants and mutations. Disease context includes tubulointerstitial kidney disease, autosomal dominant, 2, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, and non-small cell lung carcinoma. Example MUC1 variants include T84M, E85D, and G109R.

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, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable MUC1 variants

Examples include T84M, E85D, G109R, T112A, P122H, S130Y, V138A, T159N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.