TRAPPC1
Chr 17trafficking protein particle complex subunit 1
TRAPPC1 encodes a component of the transport protein particle (TRAPP) complex that facilitates vesicular transport from the endoplasmic reticulum to the Golgi apparatus. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 18 (LGMDR18), characterized by progressive proximal muscle weakness typically beginning in childhood or adolescence. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Some data sources returned errors (1)
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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
TRAPPC1 · 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