D3Z6F5 · D3Z6F5_MOUSE
- ProteinATP synthase subunit alpha
- GeneAtp5f1a
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids503 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389512826 | 2 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77865234C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77865234C>T Locations: - p.Ser2Phe (Ensembl:ENSMUST00000114748) - c.5C>T (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs13463961 | 6 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000084.7:g.77865246A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77865246A>G Locations: - p.Glu6Gly (Ensembl:ENSMUST00000114748) - c.17A>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs13463962 | 21 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000084.7:g.77865290A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77865290A>G Locations: - p.Thr21Ala (Ensembl:ENSMUST00000114748) - c.61A>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389520547 | 62 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000084.7:g.77866187A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866187A>G Locations: - p.Asp62Gly (Ensembl:ENSMUST00000114748) - c.185A>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3408113600 | 66 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000084.7:g.77866198G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866198G>A Locations: - p.Val66Ile (Ensembl:ENSMUST00000114748) - c.196G>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3408113624 | 68 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866205T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866205T>G Locations: - p.Val68Gly (Ensembl:ENSMUST00000114748) - c.203T>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs227772066 | 80 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000084.7:g.77866240G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866240G>A Locations: - p.Val80Ile (Ensembl:ENSMUST00000114748) - c.238G>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389510673 | 100 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866300G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866300G>A Locations: - p.Val100Met (Ensembl:ENSMUST00000114748) - c.298G>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389506820 | 117 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000084.7:g.77866448A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866448A>G Locations: - p.Lys117Arg (Ensembl:ENSMUST00000114748) - c.350A>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389459934 | 142 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866522G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866522G>A Locations: - p.Gly142Ser (Ensembl:ENSMUST00000114748) - c.424G>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389469840 | 154 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866559G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866559G>C Locations: - p.Arg154Pro (Ensembl:ENSMUST00000114748) - c.461G>C (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389477845 | 157 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866568G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866568G>C Locations: - p.Arg157Pro (Ensembl:ENSMUST00000114748) - c.470G>C (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389511935 | 172 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866793C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866793C>T Locations: - p.Ala172Val (Ensembl:ENSMUST00000114748) - c.515C>T (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389490603 | 175 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000084.7:g.77866801A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866801A>T Locations: - p.Thr175Ser (Ensembl:ENSMUST00000114748) - c.523A>T (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389504873 | 208 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77866902G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77866902G>C Locations: - p.Gln208His (Ensembl:ENSMUST00000114748) - c.624G>C (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389506749 | 226 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77867554C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77867554C>T Locations: - p.Ser226Leu (Ensembl:ENSMUST00000114748) - c.677C>T (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389523486 | 227 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77867556G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77867556G>A Locations: - p.Ala227Thr (Ensembl:ENSMUST00000114748) - c.679G>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389504105 | 346 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77868694G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77868694G>C Locations: - p.Glu346Gln (Ensembl:ENSMUST00000114748) - c.1036G>C (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389512762 | 356 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77868725C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77868725C>A Locations: - p.Pro356His (Ensembl:ENSMUST00000114748) - c.1067C>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389506789 | 383 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000084.7:g.77868924A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77868924A>G Locations: - p.Met383Val (Ensembl:ENSMUST00000114748) - c.1147A>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389511966 | 393 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000084.7:g.77868955T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77868955T>A Locations: - p.Val393Glu (Ensembl:ENSMUST00000114748) - c.1178T>A (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3408739198 | 461 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000084.7:g.77869600T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77869600T>G Locations: - p.Phe461Val (Ensembl:ENSMUST00000114748) - c.1381T>G (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: | |||||||
rs3389511926 | 462 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000084.7:g.77869604T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.77869604T>C Locations: - p.Leu462Ser (Ensembl:ENSMUST00000114748) - c.1385T>C (Ensembl:ENSMUST00000114748) Source type: large scale study Cross-references: |