NUDT22

Chr 11

nudix hydrolase 22

NCBI Gene: 84304 ENSG00000149761 UniProt: Q9BRQ3

The protein hydrolyzes UDP-glucose to glucose 1-phosphate and UMP, with UDP-glucose as the preferred substrate, and also processes UDP-galactose to galactose 1-phosphate and UMP. Mutations cause autosomal recessive intellectual disability and developmental delay. The gene shows tolerance to loss-of-function variation, which is consistent with the recessive inheritance pattern observed in affected individuals.

ResearchSummary from RefSeq, UniProt

Enables UDP-sugar diphosphatase activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

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?

1.35LOEUF

pLI 0.000

Z-score 0.62

OE 0.82 (0.51–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.00Z-score

OE missense 0.79 (0.69–0.91)

142 obs / 179.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.82 (0.51–1.35)

0≤0.351.4

Missense OE?0.79 (0.69–0.91)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 11 / 13.5Missense obs/exp: 142 / 179.6Syn Z: 1.32

Background carrier burden — how many people carry a rare variant somewhere in NUDT22?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

425 rare PASS variants

Rare truncating (LoF)

1 in 870

86 rare PASS variants

Rare synonymous (reference)

1 in 180

189 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NUDT22. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 220	1 in 770
South Asian	~43k	1 in 130	1 in 1,200
Remaining (unassigned)	~30k	1 in 140	1 in 920
European (Finnish)	~27k	1 in 290	1 in 2,800
Admixed American	~22k	1 in 220	1 in 1,600
African / African American	~21k	1 in 96	1 in 1,300
East Asian	~20k	1 in 130	1 in 1,200
Ashkenazi Jewish	~13k	1 in 210	1 in 930
Middle Eastern	~2,884	1 in 170	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓