TRMT1 Chromosome 19
TRNA methyltransferase 1
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What This Gene Does
This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"Zinc fingers CCCH-type|7BS DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000104907
Associated Conditions (4)
Intellectual developmental disorder
autosomal recessive 68
Inborn genetic diseases
Squamous cell carcinoma of the head and neck
Key Variants
RS374273151
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 68, Inborn genetic diseases
Health Risk
RS1244833672
Likely pathogenic
Health Risk
RS1352655452
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS1555716802
Likely pathogenic
Health Risk
RS2019322057
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS2019344087
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS2145578013
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS542184779
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Squamous cell carcinoma of the head and neck
Health Risk
RS750785552
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS751298016
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS756963751
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder
Health Risk
RS771096015
Likely pathogenic
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374273151 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal recessive 68, Inborn genetic diseases |
| RS1244833672 | Health Risk | Likely pathogenic | — |
| RS1352655452 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS1555716802 | Health Risk | Likely pathogenic | — |
| RS2019322057 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS2019344087 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS2145578013 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS542184779 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Squamous cell carcinoma of the head and neck |
| RS750785552 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS751298016 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS756963751 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS771096015 | Health Risk | Likely pathogenic | — |
| RS868289171 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS1203487591 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS1568361011 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS2019294247 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2019321826 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS2513068920 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS2513086957 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2513108777 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS746572548 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS761486084 | Health Risk | Pathogenic | — |
| RS763302328 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 68, Intellectual developmental disorder |
| RS781654974 | Health Risk | Pathogenic | — |
| RS1402479694 | Health Risk | Pathogenic/Likely pathogenic | — |