TRMT5 Chromosome 14
TRNA methyltransferase 5
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What This Gene Does
tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"7BS DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000126814
Associated Conditions (4)
Combined oxidative phosphorylation defect type 26
TRMT5-related disorder
Intellectual disability
Inborn genetic diseases
Key Variants
RS114570574
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 26, TRMT5-related disorder, Intellectual disability
Health Risk
RS115407315
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 26, TRMT5-related disorder, Inborn genetic diseases
Health Risk
RS147405788
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2296928
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
Health Risk
RS755184077
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 26, TRMT5-related disorder, Combined oxidative phosphorylation defect type 26
Health Risk
RS766273160
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766935145
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
Health Risk
RS1443616611
Likely pathogenic
Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
Health Risk
RS1057517685
Pathogenic
Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114570574 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 26, TRMT5-related disorder, Intellectual disability |
| RS115407315 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 26, TRMT5-related disorder, Inborn genetic diseases |
| RS147405788 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2296928 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26 |
| RS755184077 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 26, TRMT5-related disorder, Combined oxidative phosphorylation defect type 26 |
| RS766273160 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766935145 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26 |
| RS1443616611 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26 |
| RS1057517685 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26 |