MT-TW

Chr MT

tRNA-Trp

Also known as: MTTW

This gene encodes mitochondrial tRNA for tryptophan, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause encephalomyopathy and Leigh syndrome through disruption of mitochondrial energy production. Inheritance is maternal, and clinical severity depends on the degree of heteroplasmy in affected tissues.

GeneReviews ResearchSummary from Curated mito context

GeneReviews ResearchGenerating clinical summary…

Clinical Summary— MT-TW

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Gene-Disease Validity (ClinGen)

mitochondrial disease · MTDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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ClinVar Variants

6 unique Pathogenic / Likely Pathogenic· 16 VUS of 39 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — MT-TW

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

39 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Pathogenic5

VUS16

Likely Benign6

Benign11

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

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

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	—	—	—	—	1
Likely Pathogenic	—	—	—	—	5
VUS	—	—	—	—	16
Likely Benign	—	—	—	—	6
Benign	—	—	—	—	11
Total	—				39

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

3 pathogenic / likely-pathogenic (of 4) ClinVar copy-number / structural variants overlap MT-TW — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →