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TRR-TCT2-1

Chr 17

tRNA-Arg (anticodon TCT) 2-1

Also known as: TRNAR1, TRR1

Transfer RNA arginine-1 is a mitochondrially-encoded tRNA that carries arginine during mitochondrial protein synthesis and has an anticodon UCU. Mutations in this gene cause mitochondrial disorders with maternal inheritance. The gene is part of the mitochondrial genome and contributes to the cellular energy production machinery.

OMIMResearchSummary from RefSeq
Clinical SummaryTRR-TCT2-1
📋
ClinVar Variants
21 unique Pathogenic / Likely Pathogenic· 15 VUS of 36 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TRR-TCT2-1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

36 submitted variants in ClinVar

Classification Summary

Pathogenic21
VUS15
21
Pathogenic
15
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
21
Likely Pathogenic
0
VUS
15
Likely Benign
0
Benign
0
Total36

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRR-TCT2-1 · 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 →

No publications found for TRR-TCT2-1