NUDT15

Chr 13

nudix hydrolase 15

Also known as: MTH2, NUDT15D

NCBI Gene: 55270ENSG00000136159UniProt: Q9NV35

This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]

ResearchGenerating clinical summary…
2
Active trials
99
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.41
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.41LOEUF
pLI 0.002
Z-score 0.81
OE 0.68 (0.35–1.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.07Z-score
OE missense 0.98 (0.82–1.18)
83 obs / 84.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.35–1.41)
0≤0.351.4
Missense OE?0.98 (0.82–1.18)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 5 / 7.4Missense obs/exp: 83 / 84.8Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NUDT15 · 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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients