B7PDC5 · GATA_IXOSC
- ProteinGlutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
- GenegatA
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids505 (go to sequence)
- Protein existenceInferred from homology
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
tmp_DS689337_56249_G_A | 417 | R>K | VBP0000120 | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: DS689337:g.56249G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: Genomic location: DS689337:g.56249G>A Locations: - p.Arg417Lys (EnsemblMetazoa:ISCW003184-RA) - c.1250G>A (EnsemblMetazoa:ISCW003184-RA) Source type: large scale study Cross-references: - VBP0000120: tmp_DS689337_56249_G_A | |||||||
tmp_DS689337_56253_T_A | 418 | H>Q | VBP0000120 | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: DS689337:g.56253T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: Genomic location: DS689337:g.56253T>A Locations: - p.His418Gln (EnsemblMetazoa:ISCW003184-RA) - c.1254T>A (EnsemblMetazoa:ISCW003184-RA) Source type: large scale study Cross-references: - VBP0000120: tmp_DS689337_56253_T_A |