MAN2B1
Chr 19ARmannosidase alpha class 2B member 1
LOFmechanismARLOEUF 0.971 OMIM phenotype
Clinical Summary— MAN2B1
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Gene-Disease Validity (ClinGen)
alpha-mannosidosis · 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.
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.75
OE 0.75 (0.58–0.97)
Typical tolerance to LoF variation
Missense Constraint?
1.15Z-score
OE missense 0.87 (0.81–0.94)
557 obs / 638.9 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.75 (0.58–0.97)
0≤0.351.4
Missense OE?0.87 (0.81–0.94)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 41 / 55.0Missense obs/exp: 557 / 638.9Syn Z: -0.15
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAN2B1 · 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