ORC1 (Q13415) variants and mutations

ORC1 (also known as Q13415) is a human protein-coding gene encoding an origin recognition complex subunit 1 protein. It helps mark replication origins and assemble the prereplication complex needed to license DNA replication once per cell cycle. Biallelic pathogenic variants cause Meier-Gorlin syndrome, characterized by severe growth restriction, microtia, and absent or small patellae. This analysis covers 1,350 ORC1 variants and mutations. Of these, 66% have computational variant effect predictions. Disease context includes Ear-patella-short stature syndrome, neurodegenerative disease, and Meier-Gorlin syndrome. Example ORC1 variants include A2T, A2V, and A2P.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ORC1 variants

Examples include A2T, A2V, A2P, A2A, A2G, H3L, H3P, H3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.