TOR1B
Chr 9torsin family 1 member B
Also known as: DQ1
TOR1B encodes an ATPase that functions as a molecular chaperone in the endoplasmic reticulum and nuclear envelope, assisting in proper folding of secreted and membrane proteins and maintaining organellar integrity in non-neural cells. Mutations cause autosomal recessive congenital muscular dystrophy with joint hyperlaxity. The gene shows low constraint to loss-of-function variation (pLI 0.06, LOEUF 0.76), which is consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
TOR1B · 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