IFT172 (Q9UG01) variants and mutations

IFT172 (also known as Q9UG01) is a human protein-coding gene encoding an intraflagellar transport protein 172 homolog protein. It supports intraflagellar transport required for assembly and maintenance of primary and sensory cilia. Biallelic pathogenic variants cause ciliopathies that can involve retinal degeneration, skeletal abnormalities, kidney disease, or Joubert-spectrum neurologic findings. This analysis covers 2,187 IFT172 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes short-rib thoracic dysplasia 10 with or without polydactyly, retinitis pigmentosa 71, and Bardet-Biedl syndrome 20. Example IFT172 variants include H2N, H2P, and H2Q.

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 IFT172 variants

Examples include H2N, H2P, H2Q, H2R, L3W, H5D, H5Y, L6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.