E9Q0X0 · E9Q0X0_MOUSE
- ProteinProteasome subunit alpha type
- GenePsma4
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids139 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389046563 | 12 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.54859655T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54859655T>A Locations: - p.Phe12Ile (Ensembl:ENSMUST00000171900) - c.34T>A (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389048379 | 20 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.54859974C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.54859974C>T Locations: - p.Gln20Ter (Ensembl:ENSMUST00000171900) - c.58C>T (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3388994136 | 88 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.54862000A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862000A>T Locations: - p.Asn88Ile (Ensembl:ENSMUST00000171900) - c.263A>T (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389046490 | 93 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000075.7:g.54862015T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862015T>A Locations: - p.Ile93Asn (Ensembl:ENSMUST00000171900) - c.278T>A (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389025567 | 93 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000075.7:g.54862014A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862014A>G Locations: - p.Ile93Val (Ensembl:ENSMUST00000171900) - c.277A>G (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389012449 | 98 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000075.7:g.54862169T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862169T>A Locations: - p.Leu98Ile (Ensembl:ENSMUST00000171900) - c.292T>A (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389040672 | 108 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.54862201G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862201G>T Locations: - p.Glu108Asp (Ensembl:ENSMUST00000171900) - c.324G>T (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389040585 | 109 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.54862203A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862203A>T Locations: - p.Gln109Leu (Ensembl:ENSMUST00000171900) - c.326A>T (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389040655 | 110 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.54862205T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862205T>G Locations: - p.Leu110Val (Ensembl:ENSMUST00000171900) - c.328T>G (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: | |||||||
rs3389041728 | 124 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.54862249T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.54862249T>G Locations: - p.Phe124Leu (Ensembl:ENSMUST00000171900) - c.372T>G (Ensembl:ENSMUST00000171900) Source type: large scale study Cross-references: |