MTRES1

Chr 6

mitochondrial transcription rescue factor 1

Also known as: C6orf203, HSPC230, PRED31

NCBI Gene: 51250 ENSG00000130349 UniProt: Q9P0P8 OMIM: 618583

Enables ribosomal large subunit binding activity and tRNA binding activity. Involved in regulation of mitochondrial transcription and rescue of stalled mitochondrial ribosome. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.18

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.001

Z-score 1.19

OE 0.60 (0.33–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.17Z-score

OE missense 1.04 (0.91–1.20)

137 obs / 131.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.60 (0.33–1.18)

0≤0.351.4

Missense OE?1.04 (0.91–1.20)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 6 / 10.1Missense obs/exp: 137 / 131.6Syn Z: 0.60

Background carrier burden — how many people carry a rare variant somewhere in MTRES1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

291 rare PASS variants

Rare truncating (LoF)

1 in 1,200

53 rare PASS variants

Rare synonymous (reference)

1 in 1,200

100 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MTRES1. 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 230	1 in 4,000
South Asian	~43k	1 in 140	1 in 940
Remaining (unassigned)	~30k	1 in 130	1 in 1,800
European (Finnish)	~27k	1 in 1,000	1 in 1,500
Admixed American	~22k	1 in 110	1 in 1,300
African / African American	~21k	1 in 260	≈ 1 in 4,200
East Asian	~20k	1 in 140	1 in 580
Ashkenazi Jewish	~13k	1 in 930	none seen
Middle Eastern	~2,884	1 in 130	≈ 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 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓