Q91VJ1 · AIM2_MOUSE
- ProteinInterferon-inducible protein AIM2
- GeneAim2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids354 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388518956 | 49 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000067.7:g.173283064G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173283064G>T Locations: - p.Ala49Ser (Ensembl:ENSMUST00000147604) - c.145G>T (Ensembl:ENSMUST00000147604) - p.Ala49Ser (Ensembl:ENSMUST00000166137) - c.145G>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs31606216 | 60 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000067.7:g.173283098C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173283098C>G Locations: - p.Ser60Cys (Ensembl:ENSMUST00000147604) - c.179C>G (Ensembl:ENSMUST00000147604) - p.Ser60Cys (Ensembl:ENSMUST00000166137) - c.179C>G (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs31610204 | 92 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000067.7:g.173287275C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173287275C>T Locations: - p.Leu92Phe (Ensembl:ENSMUST00000147604) - c.274C>T (Ensembl:ENSMUST00000147604) - p.Leu92Phe (Ensembl:ENSMUST00000166137) - c.274C>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3539938071 | 104 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000067.7:g.173287312T>A Codon: GTA/GAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173287312T>A Locations: - p.Val104Glu (Ensembl:ENSMUST00000147604) - c.311T>A (Ensembl:ENSMUST00000147604) - p.Val104Glu (Ensembl:ENSMUST00000166137) - c.311T>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs261408982 | 124 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000067.7:g.173287372A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173287372A>G Locations: - p.Asp124Gly (Ensembl:ENSMUST00000147604) - c.371A>G (Ensembl:ENSMUST00000147604) - p.Asp124Gly (Ensembl:ENSMUST00000166137) - c.371A>G (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390921718 | 144 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000067.7:g.173289490G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289490G>A Locations: - p.Met144Ile (Ensembl:ENSMUST00000147604) - c.432G>A (Ensembl:ENSMUST00000147604) - p.Met144Ile (Ensembl:ENSMUST00000166137) - c.432G>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3391022025 | 150 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000067.7:g.173289507C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289507C>T Locations: - p.Ala150Val (Ensembl:ENSMUST00000147604) - c.449C>T (Ensembl:ENSMUST00000147604) - p.Ala150Val (Ensembl:ENSMUST00000166137) - c.449C>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390974050 | 163 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.173289546C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289546C>T Locations: - p.Thr163Met (Ensembl:ENSMUST00000147604) - c.488C>T (Ensembl:ENSMUST00000147604) - p.Thr163Met (Ensembl:ENSMUST00000166137) - c.488C>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3539940393 | 192 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.173289632G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289632G>T Locations: - p.Asp192Tyr (Ensembl:ENSMUST00000147604) - c.574G>T (Ensembl:ENSMUST00000147604) - p.Asp192Tyr (Ensembl:ENSMUST00000166137) - c.574G>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs31607756 | 216 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000067.7:g.173289704T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289704T>A Locations: - p.Ser216Thr (Ensembl:ENSMUST00000147604) - c.646T>A (Ensembl:ENSMUST00000147604) - p.Ser216Thr (Ensembl:ENSMUST00000166137) - c.646T>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390919326 | 226 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.173289735A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289735A>T Locations: - p.Glu226Val (Ensembl:ENSMUST00000147604) - c.677A>T (Ensembl:ENSMUST00000147604) - p.Glu226Val (Ensembl:ENSMUST00000166137) - c.677A>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3391008835 | 227 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.173289738T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289738T>C Locations: - p.Val227Ala (Ensembl:ENSMUST00000147604) - c.680T>C (Ensembl:ENSMUST00000147604) - p.Val227Ala (Ensembl:ENSMUST00000166137) - c.680T>C (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3391002240 | 227 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000067.7:g.173289737G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289737G>A Locations: - p.Val227Ile (Ensembl:ENSMUST00000147604) - c.679G>A (Ensembl:ENSMUST00000147604) - p.Val227Ile (Ensembl:ENSMUST00000166137) - c.679G>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390921700 | 228 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000067.7:g.173289740A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289740A>T Locations: - p.Thr228Ser (Ensembl:ENSMUST00000147604) - c.682A>T (Ensembl:ENSMUST00000147604) - p.Thr228Ser (Ensembl:ENSMUST00000166137) - c.682A>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs232868069 | 236 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.173289765T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289765T>C Locations: - p.Val236Ala (Ensembl:ENSMUST00000147604) - c.707T>C (Ensembl:ENSMUST00000147604) - p.Val236Ala (Ensembl:ENSMUST00000166137) - c.707T>C (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3539938517 | 237 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000067.7:g.173289768A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289768A>G Locations: - p.Glu237Gly (Ensembl:ENSMUST00000147604) - c.710A>G (Ensembl:ENSMUST00000147604) - p.Glu237Gly (Ensembl:ENSMUST00000166137) - c.710A>G (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3388517996 | 264 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.173289849G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173289849G>A Locations: - p.Cys264Tyr (Ensembl:ENSMUST00000147604) - c.791G>A (Ensembl:ENSMUST00000147604) - p.Cys264Tyr (Ensembl:ENSMUST00000166137) - c.791G>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3388519013 | 282 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000067.7:g.173291440G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173291440G>A Locations: - p.Asp282Asn (Ensembl:ENSMUST00000147604) - c.844G>A (Ensembl:ENSMUST00000147604) - p.Asp282Asn (Ensembl:ENSMUST00000166137) - c.844G>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3391008784 | 342 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.173292543A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173292543A>G Locations: - p.Lys342Glu (Ensembl:ENSMUST00000147604) - c.1024A>G (Ensembl:ENSMUST00000147604) - p.Lys342Glu (Ensembl:ENSMUST00000166137) - c.1024A>G (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390993952 | 346 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000067.7:g.173292555C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173292555C>T Locations: - p.Pro346Ser (Ensembl:ENSMUST00000147604) - c.1036C>T (Ensembl:ENSMUST00000147604) - p.Pro346Ser (Ensembl:ENSMUST00000166137) - c.1036C>T (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390951616 | 349 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.173292566C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173292566C>G Locations: - p.Asp349Glu (Ensembl:ENSMUST00000147604) - c.1047C>G (Ensembl:ENSMUST00000147604) - p.Asp349Glu (Ensembl:ENSMUST00000166137) - c.1047C>G (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3391002232 | 354 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000067.7:g.173292580A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173292580A>G Locations: - p.Glu354Gly (Ensembl:ENSMUST00000147604) - c.1061A>G (Ensembl:ENSMUST00000147604) - p.Glu354Gly (Ensembl:ENSMUST00000166137) - c.1061A>G (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: | |||||||
rs3390853040 | 354 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000067.7:g.173292579G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.173292579G>A Locations: - p.Glu354Lys (Ensembl:ENSMUST00000147604) - c.1060G>A (Ensembl:ENSMUST00000147604) - p.Glu354Lys (Ensembl:ENSMUST00000166137) - c.1060G>A (Ensembl:ENSMUST00000166137) Source type: large scale study Cross-references: |