RPL3L

Chr 16AR

ribosomal protein L3 like

Also known as: CMD2D

This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiomyopathy, dilated, 2DMIM #619371
AR

Clinical highlights

Gene-disease validity (ClinGen)
cardiomyopathy, dilated, 2D · ARModerateconsider for supplementary testing
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.61
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.000
Z-score -0.53
OE 1.13 (0.811.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.69Z-score
OE missense 1.12 (1.021.23)
301 obs / 269.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.13 (0.811.61)
00.351.4
Missense OE?1.12 (1.021.23)
00.61.4
Synonymous OE?1.31
01.21.6
LoF obs/exp: 22 / 19.5Missense obs/exp: 301 / 269.3Syn Z: -2.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RPL3L · 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 →