DPM1
Chr 20ARdolichyl-phosphate mannosyltransferase subunit 1, catalytic
Also known as: CDGIE, MPDS
DPM1 encodes the catalytic subunit of dolichol-phosphate mannose synthase, which transfers mannose from GDP-mannose to dolichol monophosphate to produce the mannosyl donor required for N-glycosylation, GPI anchor synthesis, and O-mannosylation of proteins. Mutations cause congenital disorder of glycosylation type Ie, which is inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (pLI 0.0002, LOEUF 0.87), consistent with recessive inheritance 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
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
100 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 | 4 | 0 | 1 | 0 | 5 |
Likely Pathogenic | 2 | 0 | 0 | 0 | 2 |
VUS | 0 | 36 | 4 | 1 | 41 |
Likely Benign | 1 | 0 | 28 | 15 | 44 |
Benign | 0 | 0 | 5 | 0 | 5 |
Conflicting | — | 3 | |||
| Total | 7 | 36 | 38 | 16 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DPM1 · 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