MRPL9

Chr 1

mitochondrial ribosomal protein L9

Also known as: L9mt, bL9m

NCBI Gene: 65005ENSG00000143436UniProt: Q9BYD2OMIM: 611824

This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.05
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.43
OE 0.58 (0.34–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.26Z-score
OE missense 0.94 (0.82–1.08)
141 obs / 150.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.34–1.05)
0≤0.351.4
Missense OE?0.94 (0.82–1.08)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 8 / 13.7Missense obs/exp: 141 / 150.1Syn Z: -0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MRPL9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients