CARNMT1
Chr 9carnosine N-methyltransferase 1
Also known as: C9orf41, UPF0586
The protein encoded by this gene is a methyltransferase that converts carnosine to anserine and methylates other histidine-containing dipeptides and tripeptides. This gene is not well-established as a cause of human disease, with very low constraint against loss-of-function variants suggesting that complete loss of function may be tolerated in humans.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
104 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 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 1 | 4 | 0 | 5 |
VUS | 0 | 48 | 7 | 0 | 55 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 49 | 45 | 2 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CARNMT1 · 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