MTRF1

Chr 13

mitochondrial translation release factor 1

Also known as: MRF1, MTTRF1, RF1

NCBI Gene: 9617ENSG00000120662UniProt: O75570OMIM: 604601

The encoded protein is a mitochondrial peptide chain release factor that directs the termination of translation in response to non-canonical stop codons AGG and AGA found in specific mitochondrial genes (MT-CO1 and MT-ND6). Based on current databases, no specific diseases have been definitively associated with pathogenic variants in this gene. The gene shows minimal constraint against loss-of-function variants (very low pLI score), suggesting that complete loss of function may be tolerated.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.97
Clinical Summary— MTRF1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
48 unique Pathogenic / Likely Pathogenic· 60 VUS of 128 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.97LOEUF
pLI 0.000
Z-score 1.69
OE 0.67 (0.47–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.60Z-score
OE missense 0.89 (0.80–1.00)
213 obs / 238.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.67 (0.47–0.97)
0≤0.351.4
Missense OE0.89 (0.80–1.00)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 20 / 30.0Missense obs/exp: 213 / 238.9Syn Z: 0.70
DN
0.77top 25%
GOF
0.5857th %ile
LOF
0.2580th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

128 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic48
VUS60
Likely Benign2
Benign4
48
Pathogenic
60
VUS
2
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
48
0
48
Likely Pathogenic
0
0
0
0
0
VUS
0
56
4
0
60
Likely Benign
0
2
0
0
2
Benign
0
1
0
3
4
Total059523114

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

View in ClinVar →

Protein Context — Lollipop Plot

MTRF1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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