G3UWN5 · G3UWN5_MOUSE
- ProteinApolipoprotein E
- GeneApoe
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids232 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs13463659 | 32 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000073.7:g.19431522T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19431522T>C Locations: - p.Ser32Gly (Ensembl:ENSMUST00000172983) - c.94A>G (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388866348 | 49 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.19431469C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.19431469C>T Locations: - p.Trp49Ter (Ensembl:ENSMUST00000172983) - c.147G>A (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388887784 | 57 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.19431446A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19431446A>T Locations: - p.Val57Asp (Ensembl:ENSMUST00000172983) - c.170T>A (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs13463665 | 58 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.19431444G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.19431444G>A Locations: - p.Gln58Ter (Ensembl:ENSMUST00000172983) - c.172C>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388881817 | 60 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000073.7:g.19431438C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19431438C>T Locations: - p.Glu60Lys (Ensembl:ENSMUST00000172983) - c.178G>A (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs13463663 | 87 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000073.7:g.19430980C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430980C>G Locations: - p.Glu87Asp (Ensembl:ENSMUST00000172983) - c.261G>C (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388881843 | 88-89 | LE>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.19430976_19430977insAACCATCACTCA Codon: -/TGAGTGATGGTT Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430976_19430977insAACCATCACTCA Locations: - p.Leu88_Glu89insTer (Ensembl:ENSMUST00000172983) - c.264_265insTGAGTGATGGTT (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs13463668 | 89 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000073.7:g.19430974C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430974C>G Locations: - p.Glu89Asp (Ensembl:ENSMUST00000172983) - c.267G>C (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388882020 | 90 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.19430972T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430972T>A Locations: - p.Glu90Val (Ensembl:ENSMUST00000172983) - c.269A>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388886649 | 98 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000073.7:g.19430947C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430947C>A Locations: - p.Glu98Asp (Ensembl:ENSMUST00000172983) - c.294G>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388860252 | 105 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.19430928T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430928T>A Locations: - p.Lys105Ter (Ensembl:ENSMUST00000172983) - c.313A>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs13463655 | 106 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.19430925C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430925C>T Locations: - p.Glu106Lys (Ensembl:ENSMUST00000172983) - c.316G>A (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388887818 | 111 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.19430909T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430909T>A Locations: - p.Gln111Leu (Ensembl:ENSMUST00000172983) - c.332A>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs13463656 | 130 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.19430852T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430852T>A Locations: - p.Asn130Ile (Ensembl:ENSMUST00000172983) - c.389A>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388881950 | 149 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000073.7:g.19430795G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430795G>A Locations: - p.Thr149Ile (Ensembl:ENSMUST00000172983) - c.446C>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs13463654 | 163 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000073.7:g.19430752C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430752C>A Locations: - p.Glu163Asp (Ensembl:ENSMUST00000172983) - c.489G>T (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: | |||||||
rs3388886650 | 200 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000073.7:g.19430642T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.19430642T>C Locations: - p.Gln200Arg (Ensembl:ENSMUST00000172983) - c.599A>G (Ensembl:ENSMUST00000172983) Source type: large scale study Cross-references: |