MT-TR
Chr MTtRNA-Arg
Also known as: MTTR
39
ClinVar variants
18
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— MT-TR
🧬
Gene-Disease Validity (ClinGen)
mitochondrial disease · MTModerate
Moderate evidence — consider for supplementary testing
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 10 VUS of 39 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
39 submitted variants in ClinVar
Classification Summary
Pathogenic16
Likely Pathogenic2
VUS10
Likely Benign5
Benign6
16
Pathogenic
2
Likely Pathogenic
10
VUS
5
Likely Benign
6
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 16 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 10 |
Likely Benign | — | — | — | — | 5 |
Benign | — | — | — | — | 6 |
| Total | — | 39 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MT-TR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR
MIM #590005 · *
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
📖
Open GeneReview ↗GeneReview available — MT-TR
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Strain background effects and genetic modifiers of hearing in mice.
Johnson KR et al.·Brain Res
2006Review
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
Smits P et al.·Eur J Hum Genet
2010Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)