MRPL11

Chr 11

mitochondrial ribosomal protein L11

Also known as: CGI-113, L11MT, MRP-L11, uL11m

NCBI Gene: 65003 ENSG00000174547 UniProt: Q9Y3B7 OMIM: 611826

The protein is a component of the 39S large subunit of the mitochondrial ribosome, which synthesizes proteins encoded by mitochondrial DNA. Mutations cause autosomal recessive mitochondrial disorders with early onset, typically affecting energy-demanding tissues including the brain, heart, and skeletal muscle. The gene shows high constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq

This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.88

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.88LOEUF

pLI 0.000

Z-score -0.57

OE 1.24 (0.71–1.88)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.19Z-score

OE missense 1.05 (0.90–1.23)

113 obs / 107.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.24 (0.71–1.88)

0≤0.351.4

Missense OE?1.05 (0.90–1.23)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 8 / 6.4Missense obs/exp: 113 / 107.6Syn Z: 0.01

Background carrier burden — how many people carry a rare variant somewhere in MRPL11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 320

300 rare PASS variants

Rare truncating (LoF)

1 in 2,600

56 rare PASS variants

Rare synonymous (reference)

1 in 320

124 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MRPL11. 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 380	1 in 3,000
South Asian	~43k	1 in 200	1 in 1,200
Remaining (unassigned)	~30k	1 in 300	1 in 1,900
European (Finnish)	~27k	1 in 380	1 in 5,000
Admixed American	~22k	1 in 290	1 in 2,300
African / African American	~21k	1 in 170	1 in 1,900
East Asian	~20k	1 in 260	1 in 4,000
Ashkenazi Jewish	~13k	1 in 1,200	none seen
Middle Eastern	~2,884	1 in 260	none seen

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): 4 of 5 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 5.? see exons ↓