ALG2
Chr 9ARALG2 alpha-1,3/1,6-mannosyltransferase
Also known as: CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2
The protein functions as an alpha 1,3 mannosyltransferase in the endoplasmic reticulum, catalyzing the addition of mannose residues to dolichol-linked oligosaccharide precursors during N-linked glycosylation. Biallelic mutations cause congenital disorder of glycosylation type Ii and congenital myasthenic syndrome type 14 with tubular aggregates, both inherited in an autosomal recessive pattern. The pathogenic mechanism involves dominant-negative effects that disrupt normal protein glycosylation.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
ALG2 · 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