QRSL1

Chr 6AR

glutaminyl-tRNA amidotransferase subunit QRSL1

Also known as: COXPD40, GatA

NCBI Gene: 55278ENSG00000130348UniProt: Q9H0R6OMIM: 617209

Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 40. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Combined oxidative phosphorylation deficiency 40MIM #618835
AR
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 1.99
OE 0.59 (0.40–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.07Z-score
OE missense 0.82 (0.73–0.91)
228 obs / 278.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.40–0.89)
0≤0.351.4
Missense OE?0.82 (0.73–0.91)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 16 / 27.2Missense obs/exp: 228 / 278.4Syn Z: -0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

QRSL1 · 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