MRPL13

Chr 8

mitochondrial ribosomal protein L13

Also known as: L13, L13A, L13mt, RPL13, RPML13, uL13m

NCBI Gene: 28998 ENSG00000172172 UniProt: Q9BYD1

The protein is a component of the large 39S subunit of mitochondrial ribosomes, which are responsible for protein synthesis within mitochondria. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems, typically presenting in infancy or early childhood with developmental delay, hypotonia, and metabolic dysfunction. This gene shows very low constraint against loss-of-function variants (pLI near 0), which is consistent with recessive inheritance patterns.

ResearchSummary from RefSeq

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]

ResearchGenerating clinical summary…

LOEUF 1.52

Clinical Summary— MRPL13

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

26 VUS of 53 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.52LOEUF

pLI 0.000

Z-score 0.25

OE 0.92 (0.58–1.52)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.38Z-score

OE missense 0.89 (0.74–1.07)

82 obs / 92.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.92 (0.58–1.52)

0≤0.351.4

Missense OE?0.89 (0.74–1.07)

0≤0.61.4

Synonymous OE?0.77

0≤1.21.6

LoF obs/exp: 11 / 11.9Missense obs/exp: 82 / 92.1Syn Z: 0.98

ClinVar Variant Classifications

53 submitted variants in ClinVar

ClinVar

Classification Summary

VUS26

Benign1

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	26	0	26
Likely Benign	0	0	0
Benign	0	1	1
Total	26	1	27

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

52 pathogenic / likely-pathogenic (of 53) ClinVar copy-number / structural variants overlap MRPL13 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →