MOGS
Chr 2ARmannosyl-oligosaccharide glucosidase
Also known as: CDG2B, CWH41, DER7, GCS1
This enzyme cleaves distal alpha-1,2-linked glucose residues from oligosaccharide precursors in the endoplasmic reticulum as the first step in N-linked glycosylation processing. Biallelic mutations cause congenital disorder of glycosylation type IIb (CDG-IIb), inherited in an autosomal recessive pattern. The gene shows very low intolerance to loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
600 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 19 | 0 | 7 | 0 | 26 |
Likely Pathogenic | 11 | 3 | 2 | 0 | 16 |
VUS | 12 | 312 | 5 | 0 | 329 |
Likely Benign | 0 | 3 | 29 | 178 | 210 |
Benign | 0 | 0 | 4 | 2 | 6 |
Conflicting | — | 7 | |||
| Total | 42 | 318 | 47 | 180 | 594 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MOGS · 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