SQOR

Chr 15AR

sulfide quinone oxidoreductase

Also known as: CGI-44, PRO1975, SQR, SQRDL

NCBI Gene: 58472 ENSG00000137767 UniProt: Q9Y6N5 OMIM: 617658

The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Sulfide:quinone oxidoreductase deficiencyMIM #619221

Clinical highlights

Gene–disease validity (ClinGen)

Limited · Leigh syndrome · AR · ClinGen 2021

not for standalone diagnostic reporting

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.18

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — SQOR

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.000

Z-score 0.92

OE 0.79 (0.54–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.53Z-score

OE missense 0.91 (0.81–1.01)

225 obs / 248.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.79 (0.54–1.18)

0≤0.351.4

Missense OE?0.91 (0.81–1.01)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 17 / 21.6Missense obs/exp: 225 / 248.6Syn Z: -0.56

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 68

612 rare PASS variants

Rare truncating (LoF)

1 in 2,200

98 rare PASS variants

Rare synonymous (reference)

1 in 190

241 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SQOR. 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 160	1 in 2,800
South Asian	~43k	1 in 90	1 in 540
Remaining (unassigned)	~30k	1 in 93	1 in 4,200
European (Finnish)	~27k	1 in 320	≈ 1 in 13,000
Admixed American	~22k	1 in 100	1 in 470
African / African American	~21k	1 in 76	1 in 880
East Asian	~20k	1 in 160	1 in 1,500
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 69	≈ 1 in 2,900

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 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓