DDAH1

Chr 1

dimethylarginine dimethylaminohydrolase 1

Also known as: DDAH, DDAH-1, DDAHI, HEL-S-16

NCBI Gene: 23576ENSG00000153904UniProt: O94760

This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted
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?
0.95LOEUF
pLI 0.003
Z-score 1.69
OE 0.48 (0.26–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.49Z-score
OE missense 0.66 (0.56–0.78)
98 obs / 149.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.26–0.95)
0≤0.351.4
Missense OE?0.66 (0.56–0.78)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 6 / 12.4Missense obs/exp: 98 / 149.3Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DDAH1 · 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