POMT1
Chr 9ARprotein O-mannosyltransferase 1
Also known as: LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
The protein encoded by POMT1 is an endoplasmic reticulum O-mannosyltransferase that functions with POMT2 to glycosylate dystroglycan, which is essential for muscle and brain development. Autosomal recessive mutations cause a spectrum of dystroglycanopathies ranging from severe Walker-Warburg syndrome with brain and eye malformations to milder limb-girdle muscular dystrophy. The pathogenic mechanism involves defective glycosylation of alpha-dystroglycan, disrupting its binding to extracellular matrix proteins.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POMT1 · 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
External Resources
Links to major genomics databases and tools