LMAN1
Chr 18ARlectin, mannose binding 1
Also known as: ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58
The encoded protein is a mannose-specific lectin that functions as a cargo receptor for glycoprotein transport between the endoplasmic reticulum and Golgi apparatus. Mutations cause combined factor V and VIII deficiency, an autosomal recessive bleeding disorder. The gene is not highly constrained (low pLI), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
312 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 | 5 | 1 | 71 | 0 | 77 |
Likely Pathogenic | 3 | 0 | 4 | 1 | 8 |
VUS | 0 | 92 | 56 | 5 | 153 |
Likely Benign | 0 | 7 | 8 | 1 | 16 |
Benign | 0 | 3 | 37 | 5 | 45 |
Conflicting | — | 5 | |||
| Total | 8 | 103 | 176 | 12 | 304 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LMAN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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