Q00623 · APOA1_MOUSE
- ProteinApolipoprotein A-I
- GeneApoa1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids264 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3547265486 | 4 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000075.7:g.46140265T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140265T>C Locations: - p.Val4Ala (Ensembl:ENSMUST00000034588) - c.11T>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389043346 | 8 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.46140276G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140276G>A Locations: - p.Val8Met (Ensembl:ENSMUST00000034588) - c.22G>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389040836 | 15 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.46140297G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140297G>T Locations: - p.Gly15Trp (Ensembl:ENSMUST00000034588) - c.43G>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547266740 | 19 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.46140425T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140425T>C Locations: - p.Trp19Arg (Ensembl:ENSMUST00000034588) - c.55T>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547391207 | 21 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000075.7:g.46140431G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140431G>T Locations: - p.Val21Leu (Ensembl:ENSMUST00000034588) - c.61G>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547211248 | 44 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000075.7:g.46140501C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140501C>T Locations: - p.Ala44Val (Ensembl:ENSMUST00000034588) - c.131C>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547211149 | 45 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000075.7:g.46140503G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140503G>C Locations: - p.Val45Leu (Ensembl:ENSMUST00000034588) - c.133G>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389047158 | 51 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000075.7:g.46140523C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140523C>G Locations: - p.Asp51Glu (Ensembl:ENSMUST00000034588) - c.153C>G (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462147 | 54 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.46140531C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46140531C>T Locations: - p.Ser54Phe (Ensembl:ENSMUST00000034588) - c.161C>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462140 | 71 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.46141117A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141117A>G Locations: - p.Glu71Gly (Ensembl:ENSMUST00000034588) - c.212A>G (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462142 | 89 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000075.7:g.46141170C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141170C>T Locations: - p.Pro89Ser (Ensembl:ENSMUST00000034588) - c.265C>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs584318330 | 105 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.46141218G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141218G>T Locations: - p.Val105Leu (Ensembl:ENSMUST00000034588) - c.313G>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389045425 | 108 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000075.7:g.46141228A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141228A>G Locations: - p.Glu108Gly (Ensembl:ENSMUST00000034588) - c.323A>G (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547391271 | 126 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000075.7:g.46141283A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141283A>C Locations: - p.Glu126Asp (Ensembl:ENSMUST00000034588) - c.378A>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs587578215 | 132 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000075.7:g.46141301A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141301A>T Locations: - p.Lys132Asn (Ensembl:ENSMUST00000034588) - c.396A>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462141 | 133 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000075.7:g.46141303A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141303A>C Locations: - p.Glu133Ala (Ensembl:ENSMUST00000034588) - c.398A>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs222320251 | 134 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.46141307T>G, NC_000075.7:g.46141307T>A Codon: GAT/GAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141307T>G, NC_000075.7:g.46141307T>A Locations: - p.Asp134Glu (Ensembl:ENSMUST00000034588) - c.402T>G (Ensembl:ENSMUST00000034588) - c.402T>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547266816 | 143 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_000075.7:g.46141333C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141333C>A Locations: - p.Ala143Glu (Ensembl:ENSMUST00000034588) - c.428C>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547227409 | 146 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000075.7:g.46141341G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141341G>C Locations: - p.Gly146Arg (Ensembl:ENSMUST00000034588) - c.436G>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547304865 | 152 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_000075.7:g.46141359A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141359A>G Locations: - p.Ser152Gly (Ensembl:ENSMUST00000034588) - c.454A>G (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547251005 | 158 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000075.7:g.46141379G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141379G>C Locations: - p.Gln158His (Ensembl:ENSMUST00000034588) - c.474G>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462146 | 169 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000075.7:g.46141412G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141412G>C Locations: - p.Glu169Asp (Ensembl:ENSMUST00000034588) - c.507G>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389047088 | 170 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000075.7:g.46141415A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141415A>T Locations: - p.Glu170Asp (Ensembl:ENSMUST00000034588) - c.510A>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389039233 | 185 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.46141458C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141458C>T Locations: - p.Gln185Ter (Ensembl:ENSMUST00000034588) - c.553C>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462144 | 219 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000075.7:g.46141561C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141561C>A Locations: - p.Thr219Asn (Ensembl:ENSMUST00000034588) - c.656C>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs238383285 | 224 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000075.7:g.46141575C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141575C>T Locations: - p.Leu224Phe (Ensembl:ENSMUST00000034588) - c.670C>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs229581586 | 235 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000075.7:g.46141608C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141608C>G Locations: - p.Leu235Val (Ensembl:ENSMUST00000034588) - c.703C>G (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3547227366 | 236 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000075.7:g.46141612G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141612G>A Locations: - p.Arg236His (Ensembl:ENSMUST00000034588) - c.707G>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs242329667 | 236 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000075.7:g.46141611C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141611C>A Locations: - p.Arg236Ser (Ensembl:ENSMUST00000034588) - c.706C>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs265840862 | 242 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_000075.7:g.46141631G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141631G>A Locations: - p.Met242Ile (Ensembl:ENSMUST00000034588) - c.726G>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs232043517 | 246 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000075.7:g.46141641C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141641C>G Locations: - p.Leu246Val (Ensembl:ENSMUST00000034588) - c.736C>G (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs13462139 | 249 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000075.7:g.46141650C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141650C>A Locations: - p.Gln249Lys (Ensembl:ENSMUST00000034588) - c.745C>A (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
249-250 | QV>KA | strain: BALB/c, C3H and ICR (UniProt) | UniProt | ||||
Consequence: delins Somatic: No Accession: Consequence type: delins Cytogenetic band: 9q Genomic location: Locations: - p.Gln249_Val250delinsLysAla (UniProt:Q00623) Source type: uniprot | |||||||
rs13462138 | 250 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000075.7:g.46141654T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141654T>C Locations: - p.Val250Ala (Ensembl:ENSMUST00000034588) - c.749T>C (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs214542945 | 250 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.46141653G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141653G>T Locations: - p.Val250Phe (Ensembl:ENSMUST00000034588) - c.748G>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs3389021282 | 251 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000075.7:g.46141658G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141658G>T Locations: - p.Gln251His (Ensembl:ENSMUST00000034588) - c.753G>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: | |||||||
rs242980815 | 260 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000075.7:g.46141684C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46141684C>T Locations: - p.Thr260Ile (Ensembl:ENSMUST00000034588) - c.779C>T (Ensembl:ENSMUST00000034588) Source type: large scale study Cross-references: |