MSRB2
Chr 10methionine sulfoxide reductase B2
Also known as: CBS-1, CBS1, CGI-131, MSRB, PILB
The MSRB2 protein is a mitochondrial methionine-sulfoxide reductase that reduces oxidized methionine residues back to methionine and helps preserve mitochondrial integrity during oxidative stress. Mutations cause autosomal recessive sensorineural hearing loss, which can be congenital or early-onset and may be associated with mitochondrial dysfunction. This gene primarily affects the auditory system, though the mitochondrial localization suggests potential for broader cellular effects.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
59 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 | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 33 | 0 | 0 | 33 |
Likely Benign | 0 | 5 | 0 | 1 | 6 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 38 | 10 | 1 | 49 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MSRB2 · 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