P26350 · PTMA_MOUSE
- ProteinProthymosin alpha
- GenePtma
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids111 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1134212370 | 49 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.86457206C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.86457206C>G Locations: - p.Ala49Gly (Ensembl:ENSMUST00000045897) - c.146C>G (Ensembl:ENSMUST00000045897) Source type: large scale study Cross-references: | |||||||
rs3388484284 | 61 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000067.7:g.86457242G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.86457242G>A Locations: - p.Gly61Glu (Ensembl:ENSMUST00000045897) - c.182G>A (Ensembl:ENSMUST00000045897) Source type: large scale study Cross-references: | |||||||
rs3388483648 | 70 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000067.7:g.86457269G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.86457269G>A Locations: - p.Gly70Asp (Ensembl:ENSMUST00000045897) - c.209G>A (Ensembl:ENSMUST00000045897) Source type: large scale study Cross-references: | |||||||
rs3388485730 | 76 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000067.7:g.86457465A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.86457465A>G Locations: - p.Asp76Gly (Ensembl:ENSMUST00000045897) - c.227A>G (Ensembl:ENSMUST00000045897) Source type: large scale study Cross-references: |