ALG1

Chr 16AR

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Also known as: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1

NCBI Gene: 56052ENSG00000033011UniProt: Q9BT22OMIM: 605907

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.501 OMIM phenotype
Clinical Summary— ALG1
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Gene-Disease Validity (ClinGen)
ALG1-congenital disorder of glycosylation · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score -0.41
OE 1.09 (0.80–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.05Z-score
OE missense 1.35 (1.24–1.48)
357 obs / 263.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.09 (0.80–1.50)
0≤0.351.4
Missense OE?1.35 (1.24–1.48)
0≤0.61.4
Synonymous OE?1.45
0≤1.21.6
LoF obs/exp: 27 / 24.8Missense obs/exp: 357 / 263.5Syn Z: -3.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ALG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients