MRPS35

Chr 12

mitochondrial ribosomal protein S35

Also known as: HDCMD11P, MDS023, MRP-S28, MRPS28, mS35

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 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 47
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.25
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.74
OE 0.81 (0.541.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.30Z-score
OE missense 1.07 (0.941.21)
180 obs / 168.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.541.25)
00.351.4
Missense OE?1.07 (0.941.21)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 15 / 18.4Missense obs/exp: 180 / 168.9Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRPS35 · 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 →