TRX-CAT2-1
tRNAtRNA-iMet (anticodon CAT) 2-1, the group of Cytoplasmic transfer RNAs
Gene summary
Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009]
- TRM1
- TRMI1
- TRNAMI1
- TRNAM2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TRX-CAT2-1 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||