Q99NB1 · ACS2L_MOUSE
- ProteinAcetyl-coenzyme A synthetase 2-like, mitochondrial
- GeneAcss1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids682 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs231574160 | 9 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.150510093C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150510093C>A Locations: - p.Gly9Cys (Ensembl:ENSMUST00000028944) - c.25G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388601703 | 10 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000068.8:g.150510090C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150510090C>A Locations: - p.Val10Leu (Ensembl:ENSMUST00000028944) - c.28G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388599837 | 16 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.150510072C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150510072C>A Locations: - p.Gly16Cys (Ensembl:ENSMUST00000028944) - c.46G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388592354 | 23 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000068.8:g.150510050T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150510050T>G Locations: - p.Gln23Pro (Ensembl:ENSMUST00000028944) - c.68A>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs236207681 | 46 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000068.8:g.150509981G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509981G>A Locations: - p.Ala46Val (Ensembl:ENSMUST00000028944) - c.137C>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388600364 | 49 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.150509972C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509972C>A Locations: - p.Gly49Val (Ensembl:ENSMUST00000028944) - c.146G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388596582 | 58 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150509946C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509946C>T Locations: - p.Ala58Thr (Ensembl:ENSMUST00000028944) - c.172G>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3392380086 | 71 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.150509906C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509906C>A Locations: - p.Arg71Leu (Ensembl:ENSMUST00000028944) - c.212G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388596565 | 77 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000068.8:g.150509888T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509888T>C Locations: - p.Asp77Gly (Ensembl:ENSMUST00000028944) - c.230A>G (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388591410 | 102 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150509814T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509814T>A Locations: - p.Asn102Tyr (Ensembl:ENSMUST00000028944) - c.304A>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388599758 | 103 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150509811C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150509811C>T Locations: - p.Val103Met (Ensembl:ENSMUST00000028944) - c.307G>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3411747048 | 249 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.150480324G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150480324G>A Locations: - p.Thr249Ile (Ensembl:ENSMUST00000028944) - c.746C>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388597550 | 249 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.150480325T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150480325T>G Locations: - p.Thr249Pro (Ensembl:ENSMUST00000028944) - c.745A>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388597705 | 260 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.150480292G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150480292G>A Locations: - p.Leu260Phe (Ensembl:ENSMUST00000028944) - c.778C>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388593837 | 261 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.150480289C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150480289C>T Locations: - p.Glu261Lys (Ensembl:ENSMUST00000028944) - c.781G>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388599999 | 264 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.150479916T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150479916T>A Locations: - p.Met264Leu (Ensembl:ENSMUST00000028944) - c.790A>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs236830132 | 281 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000068.8:g.150479863C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150479863C>A Locations: - p.Met281Ile (Ensembl:ENSMUST00000028944) - c.843G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388600404 | 282 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150479862G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150479862G>T Locations: - p.Leu282Ile (Ensembl:ENSMUST00000028944) - c.844C>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388595911 | 352 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150471698A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150471698A>G Locations: - p.Leu352Pro (Ensembl:ENSMUST00000028944) - c.1055T>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388601700 | 378 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.150470505A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.150470505A>T Locations: - p.Tyr378Ter (Ensembl:ENSMUST00000028944) - c.1134T>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388593789 | 382 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150470494G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150470494G>T Locations: - p.Thr382Lys (Ensembl:ENSMUST00000028944) - c.1145C>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388591109 | 407 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150470419C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150470419C>A Locations: - p.Gly407Val (Ensembl:ENSMUST00000028944) - c.1220G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3412691231 | 433 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.150469218C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150469218C>G Locations: - p.Val433Leu (Ensembl:ENSMUST00000028944) - c.1297G>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388585935 | 447 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.150468224G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468224G>A Locations: - p.Ala447Val (Ensembl:ENSMUST00000028944) - c.1340C>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388597581 | 467 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000068.8:g.150468164A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468164A>T Locations: - p.Phe467Tyr (Ensembl:ENSMUST00000028944) - c.1400T>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388586020 | 470 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000068.8:g.150468156C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468156C>A Locations: - p.Val470Phe (Ensembl:ENSMUST00000028944) - c.1408G>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs246340312 | 472 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000068.8:g.150468149A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468149A>G Locations: - p.Val472Ala (Ensembl:ENSMUST00000028944) - c.1415T>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs246340312 | 472 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.150468149A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468149A>T Locations: - p.Val472Glu (Ensembl:ENSMUST00000028944) - c.1415T>A (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3392354064 | 474 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.150468142C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468142C>G Locations: - p.Met474Ile (Ensembl:ENSMUST00000028944) - c.1422G>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3392371038 | 475 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.150468141C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150468141C>G Locations: - p.Asp475His (Ensembl:ENSMUST00000028944) - c.1423G>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388600392 | 527 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.150467016C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150467016C>G Locations: - p.Gly527Ala (Ensembl:ENSMUST00000028944) - c.1580G>C (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs27372816 | 529 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.150467011G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150467011G>A Locations: - p.His529Tyr (Ensembl:ENSMUST00000028944) - c.1585C>T (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: | |||||||
rs3388599839 | 623 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.150463436G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.150463436G>C Locations: - p.Leu623Val (Ensembl:ENSMUST00000028944) - c.1867C>G (Ensembl:ENSMUST00000028944) Source type: large scale study Cross-references: |