MRPL18

Chr 6

mitochondrial ribosomal protein L18

Also known as: HSPC071, L18mt, MRP-L18, uL18m

This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.31
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.89
OE 0.70 (0.401.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.35Z-score
OE missense 1.10 (0.941.28)
118 obs / 107.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.401.31)
00.351.4
Missense OE?1.10 (0.941.28)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 7 / 10.1Missense obs/exp: 118 / 107.6Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRPL18 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →