DTD1

Chr 20

D-aminoacyl-tRNA deacylase 1

Also known as: C20orf88, DTD, DUE-B, DUEB, HARS2, pqn-68

NCBI Gene: 92675ENSG00000125821UniProt: Q8TEA8

The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.04
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?
1.04LOEUF
pLI 0.002
Z-score 1.48
OE 0.53 (0.29–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.18Z-score
OE missense 0.69 (0.58–0.83)
81 obs / 116.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.29–1.04)
0≤0.351.4
Missense OE?0.69 (0.58–0.83)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 6 / 11.4Missense obs/exp: 81 / 116.8Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DTD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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