MRPL16

Chr 11

mitochondrial ribosomal protein L16

Also known as: L16mt, MRP-L16, PNAS-111, uL16m

NCBI Gene: 54948 ENSG00000166902 UniProt: Q9NX20 OMIM: 611829

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.41

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.41LOEUF

pLI 0.000

Z-score 0.63

OE 0.79 (0.46–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.20Z-score

OE missense 1.05 (0.92–1.19)

158 obs / 151.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.79 (0.46–1.41)

0≤0.351.4

Missense OE?1.05 (0.92–1.19)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 8 / 10.2Missense obs/exp: 158 / 151.1Syn Z: 0.73

Background carrier burden — how many people carry a rare variant somewhere in MRPL16?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

338 rare PASS variants

Rare truncating (LoF)

1 in 1,200

63 rare PASS variants

Rare synonymous (reference)

1 in 470

111 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MRPL16. 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 200	1 in 1,100
South Asian	~43k	1 in 120	1 in 3,100
Remaining (unassigned)	~30k	1 in 82	1 in 1,400
European (Finnish)	~27k	1 in 180	≈ 1 in 27,000
Admixed American	~22k	1 in 120	1 in 3,200
African / African American	~21k	1 in 190	1 in 1,200
East Asian	~20k	1 in 150	1 in 740
Ashkenazi Jewish	~13k	1 in 1,000	none seen
Middle Eastern	~2,884	1 in 99	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): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓