Aminoglycoside-induced deafness: genes and variants
Aminoglycoside-induced deafness is linked to 1 analyzed protein (TRMU). 6 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Aminoglycoside-induced deafness
TRMU: Mitochondrial tRNA-specific 2-thiouridylase 1
A mitochondrial tRNA-modifying enzyme that adds sulfur to wobble-position uridines in several mitochondrial tRNAs. This modification supports accurate mitochondrial protein synthesis, and TRMU variants are associated with aminoglycoside-related deafness and transient infantile liver failure.
6 disease-causing and 5 uncertain variants in TRMU are linked to Aminoglycoside-induced deafness.
Known disease-causing variants in Aminoglycoside-induced deafness
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TRMU Y77H | 77 | Disease-causing (★★) | |
| TRMU N96S | 96 | Interaction with target base in tRNA | Disease-causing (★★) |
| TRMU V279M | 279 | Disease-causing (★★) | |
| TRMU R227T | 227 | Disease-causing (★★) | |
| TRMU M1R | 1 | Disease-causing (★★) | |
| TRMU T174I | 174 | Disease-causing (★) |
Same protein, different disease
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins is also caused by TRMU variants; they fall mostly in different places as the Aminoglycoside-induced deafness variants (12 disease-causing).
Diseases related to Aminoglycoside-induced deafness
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, also linked to TRMU
Frequently asked questions
Which genes are linked to Aminoglycoside-induced deafness?
In CATVariant, Aminoglycoside-induced deafness is linked to 1 analyzed protein: TRMU (Mitochondrial tRNA-specific 2-thiouridylase 1).
How many genetic variants are linked to Aminoglycoside-induced deafness?
12 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Aminoglycoside-induced deafness look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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