Q99NF1 · BCDO2_MOUSE
- ProteinCarotenoid-cleaving dioxygenase, mitochondrial
- GeneBco2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids532 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389041406 | 36 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50461897A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50461897A>T Locations: - p.Trp36Arg (Ensembl:ENSMUST00000119103) - c.106T>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389047175 | 37 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50461893A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50461893A>C Locations: - p.Leu37Arg (Ensembl:ENSMUST00000119103) - c.110T>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389017391 | 118 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50457187G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50457187G>T Locations: - p.Phe118Leu (Ensembl:ENSMUST00000119103) - c.354C>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389023019 | 119 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.50457186T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50457186T>A Locations: - p.Met119Leu (Ensembl:ENSMUST00000119103) - c.355A>T (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389051478 | 133 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50456741A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50456741A>T Locations: - p.Val133Asp (Ensembl:ENSMUST00000119103) - c.398T>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs32736935 | 133 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.50456742C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50456742C>T Locations: - p.Val133Ile (Ensembl:ENSMUST00000119103) - c.397G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389010967 | 140 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50456720C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50456720C>T Locations: - p.Gly140Asp (Ensembl:ENSMUST00000119103) - c.419G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3388990377 | 161 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50456658T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50456658T>C Locations: - p.Arg161Gly (Ensembl:ENSMUST00000119103) - c.481A>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389044266 | 249 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.50451537T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50451537T>C Locations: - p.Ile249Val (Ensembl:ENSMUST00000119103) - c.745A>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs225581531 | 262 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000075.7:g.50451498T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50451498T>C Locations: - p.Ile262Val (Ensembl:ENSMUST00000119103) - c.784A>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389040760 | 275 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50451458C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50451458C>T Locations: - p.Gly275Glu (Ensembl:ENSMUST00000119103) - c.824G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389051419 | 280 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50451444G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50451444G>A Locations: - p.Pro280Ser (Ensembl:ENSMUST00000119103) - c.838C>T (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389043895 | 282 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.50451436A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.50451436A>T Locations: - p.Tyr282Ter (Ensembl:ENSMUST00000119103) - c.846T>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3399573650 | 289 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50451417C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50451417C>T Locations: - p.Val289Met (Ensembl:ENSMUST00000119103) - c.865G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs219907464 | 300 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.50450299C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50450299C>A Locations: - p.Met300Ile (Ensembl:ENSMUST00000119103) - c.900G>T (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389041409 | 316 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50450251C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50450251C>A Locations: - p.Glu316Asp (Ensembl:ENSMUST00000119103) - c.948G>T (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs6386944 | 374 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.50447602C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50447602C>T Locations: - p.Ala374Thr (Ensembl:ENSMUST00000119103) - c.1120G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs32738891 | 375 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50447598G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50447598G>C Locations: - p.Ala375Gly (Ensembl:ENSMUST00000119103) - c.1124C>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs6386942 | 375 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.50447599C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50447599C>G Locations: - p.Ala375Pro (Ensembl:ENSMUST00000119103) - c.1123G>C (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389010957 | 381 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50447581T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50447581T>C Locations: - p.Ser381Gly (Ensembl:ENSMUST00000119103) - c.1141A>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs212805979 | 416 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000075.7:g.50446906T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50446906T>C Locations: - p.Ile416Val (Ensembl:ENSMUST00000119103) - c.1246A>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs32738886 | 430 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.50446862C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50446862C>A Locations: - p.Lys430Asn (Ensembl:ENSMUST00000119103) - c.1290G>T (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389047168 | 484 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.50445945C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50445945C>T Locations: - p.Gly484Arg (Ensembl:ENSMUST00000119103) - c.1450G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs3389036783 | 494 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000075.7:g.50445913G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50445913G>C Locations: - p.Asn494Lys (Ensembl:ENSMUST00000119103) - c.1482C>G (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs32736774 | 498 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000075.7:g.50444812C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50444812C>T Locations: - p.Ser498Asn (Ensembl:ENSMUST00000119103) - c.1493G>A (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: | |||||||
rs218613849 | 518 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000075.7:g.50444753G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.50444753G>A Locations: - p.Pro518Ser (Ensembl:ENSMUST00000119103) - c.1552C>T (Ensembl:ENSMUST00000119103) Source type: large scale study Cross-references: |