CARNMT1

Chr 9

carnosine N-methyltransferase 1

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.69
Clinical SummaryCARNMT1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.69LOEUF
pLI 0.002
Z-score 2.60
OE 0.39 (0.230.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.88Z-score
OE missense 0.63 (0.550.73)
130 obs / 205.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.39 (0.230.69)
00.351.4
Missense OE0.63 (0.550.73)
00.61.4
Synonymous OE1.00
01.21.6
LoF obs/exp: 8 / 20.8Missense obs/exp: 130 / 205.7Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants 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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC