MSRB1
Chr 16methionine sulfoxide reductase B1
The protein is a selenocysteine-containing methionine-R-sulfoxide reductase that reduces oxidized methionine residues back to methionine, protecting proteins from oxidative damage and regulating actin assembly dynamics. Pathogenic variants in MSRB1 cause autosomal recessive deafness-70, which presents as congenital or early-onset hearing loss. The gene shows relatively low constraint to loss-of-function variation, consistent with its autosomal recessive inheritance pattern.
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
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MSRB1 · 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