RPL7A

Chr 9

ribosomal protein L7a

Also known as: L7A, SURF3, TRUP, eL8

The protein is a component of the large 60S ribosomal subunit that catalyzes protein synthesis and can also interact with nuclear hormone receptors to inhibit their transcriptional activity. Mutations cause developmental delays, intellectual disability, and growth retardation through an autosomal dominant inheritance pattern with high penetrance. The pathogenic mechanism involves loss-of-function mutations that disrupt ribosomal protein production, leading to impaired protein synthesis.

OMIMResearchSummary from RefSeq, UniProt, Mechanism
LOFmechanismLOEUF 0.19
Clinical SummaryRPL7A
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 35 VUS of 82 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.19LOEUF
pLI 0.995
Z-score 3.66
OE 0.00 (0.000.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.90Z-score
OE missense 0.80 (0.690.93)
130 obs / 162.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.19)
00.351.4
Missense OE0.80 (0.690.93)
00.61.4
Synonymous OE1.28
01.21.6
LoF obs/exp: 0 / 15.6Missense obs/exp: 130 / 162.3Syn Z: -1.77
DN
0.3594th %ile
GOF
0.15100th %ile
LOF
0.79top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.19

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

82 submitted variants in ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic1
VUS35
35
Pathogenic
1
Likely Pathogenic
35
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
1
0
1
VUS
1
26
8
0
35
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total12644071

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

View in ClinVar →

Protein Context — Lollipop Plot

RPL7A · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC