P21269 · CCA1_YEAST
- ProteinCCA tRNA nucleotidyltransferase, mitochondrial
- GeneCCA1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids546 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s05-522493 | 58 | P>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: V:g.522498G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: Genomic location: V:g.522498G>A Locations: - p.Pro58Ser (Ensembl:YER168C_mRNA) - c.172C>T (Ensembl:YER168C_mRNA) Source type: large scale study Cross-references: - SGRP: s05-522493 | |||||||
s05-522210 | 152 | T>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: V:g.522215G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: V:g.522215G>A Locations: - p.Thr152Ile (Ensembl:YER168C_mRNA) - c.455C>T (Ensembl:YER168C_mRNA) Source type: large scale study Cross-references: - SGRP: s05-522210 | |||||||
s05-521620 | 349 | R>C | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: V:g.521625G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: Genomic location: V:g.521625G>A Locations: - p.Arg349Cys (Ensembl:YER168C_mRNA) - c.1045C>T (Ensembl:YER168C_mRNA) Source type: large scale study Cross-references: - SGRP: s05-521620 | |||||||
s05-521109 | 519 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: V:g.521114G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Genomic location: V:g.521114G>A Locations: - p.Ala519Val (Ensembl:YER168C_mRNA) - c.1556C>T (Ensembl:YER168C_mRNA) Source type: large scale study Cross-references: - SGRP: s05-521109 |