P47199 · QOR_MOUSE
- ProteinQuinone oxidoreductase
- GeneCryz
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids331 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388664885 | 16 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154310588T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154310588T>G Locations: - p.Phe16Cys (Ensembl:ENSMUST00000029850) - c.47T>G (Ensembl:ENSMUST00000029850) - p.Phe16Cys (Ensembl:ENSMUST00000192462) - c.47T>G (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs30731705 | 58 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.154312076G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154312076G>A Locations: - p.Ala58Thr (Ensembl:ENSMUST00000029850) - c.172G>A (Ensembl:ENSMUST00000029850) - p.Ala58Thr (Ensembl:ENSMUST00000192462) - c.172G>A (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs212927886 | 83 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000069.7:g.154312153A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154312153A>T Locations: - p.Lys83Asn (Ensembl:ENSMUST00000029850) - c.249A>T (Ensembl:ENSMUST00000029850) - p.Lys83Asn (Ensembl:ENSMUST00000192462) - c.249A>T (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3388651287 | 84 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000069.7:g.154312155T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154312155T>C Locations: - p.Val84Ala (Ensembl:ENSMUST00000029850) - c.251T>C (Ensembl:ENSMUST00000029850) - p.Val84Ala (Ensembl:ENSMUST00000192462) - c.251T>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3388666871 | 99 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.154317077G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154317077G>A Locations: - p.Val99Ile (Ensembl:ENSMUST00000192462) - c.295G>A (Ensembl:ENSMUST00000192462) - p.Val99Ile (Ensembl:ENSMUST00000029850) - c.295G>A (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388666869 | 111 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.154317115T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154317115T>A Locations: - p.Asp111Glu (Ensembl:ENSMUST00000192462) - c.333T>A (Ensembl:ENSMUST00000192462) - p.Asp111Glu (Ensembl:ENSMUST00000029850) - c.333T>A (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388669007 | 115 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.154317127C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.154317127C>G Locations: - p.Tyr115Ter (Ensembl:ENSMUST00000029850) - c.345C>G (Ensembl:ENSMUST00000029850) - p.Tyr115Ter (Ensembl:ENSMUST00000192462) - c.345C>G (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3393975951 | 128 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154317165C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154317165C>T Locations: - p.Ala128Val (Ensembl:ENSMUST00000192462) - c.383C>T (Ensembl:ENSMUST00000192462) - p.Ala128Val (Ensembl:ENSMUST00000029850) - c.383C>T (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3393718397 | 129 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000069.7:g.154317167C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154317167C>A Locations: - p.Leu129Met (Ensembl:ENSMUST00000192462) - c.385C>A (Ensembl:ENSMUST00000192462) - p.Leu129Met (Ensembl:ENSMUST00000029850) - c.385C>A (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388651282 | 168 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154324119T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154324119T>A Locations: - p.Ile168Asn (Ensembl:ENSMUST00000029850) - c.503T>A (Ensembl:ENSMUST00000029850) - p.Ile168Asn (Ensembl:ENSMUST00000192462) - c.503T>A (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3388670038 | 181 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154324157G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154324157G>C Locations: - p.Gly181Arg (Ensembl:ENSMUST00000029850) - c.541G>C (Ensembl:ENSMUST00000029850) - p.Gly181Arg (Ensembl:ENSMUST00000192462) - c.541G>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3388673663 | 209 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154324241A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154324241A>T Locations: - p.Ile209Phe (Ensembl:ENSMUST00000192462) - c.625A>T (Ensembl:ENSMUST00000192462) - p.Ile209Phe (Ensembl:ENSMUST00000029850) - c.625A>T (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388668244 | 211 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000069.7:g.154327120G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327120G>C Locations: - p.Met211Ile (Ensembl:ENSMUST00000029850) - c.633G>C (Ensembl:ENSMUST00000029850) - p.Met211Ile (Ensembl:ENSMUST00000192462) - c.633G>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs230920489 | 212 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000069.7:g.154327122C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327122C>G Locations: - p.Ser212Cys (Ensembl:ENSMUST00000029850) - c.635C>G (Ensembl:ENSMUST00000029850) - p.Ser212Cys (Ensembl:ENSMUST00000192462) - c.635C>G (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs255728273 | 221 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154327149A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327149A>G Locations: - p.Asp221Gly (Ensembl:ENSMUST00000029850) - c.662A>G (Ensembl:ENSMUST00000029850) - p.Asp221Gly (Ensembl:ENSMUST00000192462) - c.662A>G (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs242651995 | 237 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.154327196A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327196A>C Locations: - p.Lys237Gln (Ensembl:ENSMUST00000029850) - c.709A>C (Ensembl:ENSMUST00000029850) - p.Lys237Gln (Ensembl:ENSMUST00000192462) - c.709A>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3388666854 | 247 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.154327317T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327317T>A Locations: - p.Val247Asp (Ensembl:ENSMUST00000192462) - c.740T>A (Ensembl:ENSMUST00000192462) - p.Val247Asp (Ensembl:ENSMUST00000029850) - c.740T>A (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs239192323 | 274 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.154327398C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327398C>T Locations: - p.Ser274Phe (Ensembl:ENSMUST00000192462) - c.821C>T (Ensembl:ENSMUST00000192462) - p.Ser274Phe (Ensembl:ENSMUST00000029850) - c.821C>T (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388670045 | 281 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.77) Somatic: No Accession: NC_000069.7:g.154327740T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327740T>C Locations: - p.Phe281Leu (Ensembl:ENSMUST00000029850) - c.841T>C (Ensembl:ENSMUST00000029850) - p.Phe281Leu (Ensembl:ENSMUST00000192462) - c.841T>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs253196935 | 287 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000069.7:g.154327758C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327758C>A Locations: - p.Leu287Ile (Ensembl:ENSMUST00000192462) - c.859C>A (Ensembl:ENSMUST00000192462) - p.Leu287Ile (Ensembl:ENSMUST00000029850) - c.859C>A (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388669982 | 298 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000069.7:g.154327791A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327791A>C Locations: - p.Lys298Gln (Ensembl:ENSMUST00000029850) - c.892A>C (Ensembl:ENSMUST00000029850) - p.Lys298Gln (Ensembl:ENSMUST00000192462) - c.892A>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3393856363 | 320 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000069.7:g.154327857G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327857G>T Locations: - p.Gly320Cys (Ensembl:ENSMUST00000192462) - c.958G>T (Ensembl:ENSMUST00000192462) - p.Gly320Cys (Ensembl:ENSMUST00000029850) - c.958G>T (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388668278 | 321 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000069.7:g.154327860A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327860A>G Locations: - p.Ser321Gly (Ensembl:ENSMUST00000192462) - c.961A>G (Ensembl:ENSMUST00000192462) - p.Ser321Gly (Ensembl:ENSMUST00000029850) - c.961A>G (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: | |||||||
rs3388668278 | 321 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000069.7:g.154327860A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327860A>C Locations: - p.Ser321Arg (Ensembl:ENSMUST00000029850) - c.961A>C (Ensembl:ENSMUST00000029850) - p.Ser321Arg (Ensembl:ENSMUST00000192462) - c.961A>C (Ensembl:ENSMUST00000192462) Source type: large scale study Cross-references: | |||||||
rs3388670889 | 324 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000069.7:g.154327869A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.154327869A>C Locations: - p.Thr324Pro (Ensembl:ENSMUST00000192462) - c.970A>C (Ensembl:ENSMUST00000192462) - p.Thr324Pro (Ensembl:ENSMUST00000029850) - c.970A>C (Ensembl:ENSMUST00000029850) Source type: large scale study Cross-references: |