Genopathy
Gene-Disorder Association · Article
Gene
MT-TL1
Mitochondrially Encoded TRNA-Leu (UUA/G) 1
Disorder
Mitochondrial Disease
First reported 1993
Supporting publications 21
Key publication · gene–disorder Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.Biochemical and biophysical research communications · 1993
Key publication · disorder Male sterility due to centriolar-mitochondrial disease of the spermatozoa.The Journal of urology · 1950
Manually curated
Association Review

In brief

The association between MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1) and Mitochondrial Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 19
Symptoms 0
Compounds 0
Trials 0
Publications 21
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
MT-TL1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Mitochondrial Disease

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

19 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

21 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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