SIDT1
Chr 3SID1 transmembrane family member 1
Also known as: SID-1, SID1
The protein is a transmembrane channel that transports long double-stranded RNA (dsRNA) into cells and binds dsRNA of 300 base pairs or longer. Mutations cause autosomal recessive congenital cataract, hearing loss, and neurodegeneration with brain atrophy, representing a multisystem disorder affecting the eyes, ears, and central nervous system. The gene shows extremely high constraint against loss-of-function variants (pLI near 1), indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SIDT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools