E9Q7S3 · E9Q7S3_MOUSE
- ProteinCytochrome b-245, beta polypeptide
- GeneCybb
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389552975 | 2 | G>V | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.9335485_9335486insTCCACACTACCTCAACCATCACTCA Codon: GGG/GTGAGTGATGGTTGAGGTAGTGTGGAGG Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.9335485_9335486insTCCACACTACCTCAACCATCACTCA Locations: - p.Gly2ValfsTer5 (Ensembl:ENSMUST00000170885) - c.4_5insTGAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000170885) Source type: large scale study Cross-references: | |||||||
rs3389531591 | 3 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.9335481G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.9335481G>T Locations: - p.Asn3Lys (Ensembl:ENSMUST00000170885) - c.9C>A (Ensembl:ENSMUST00000170885) Source type: large scale study Cross-references: | |||||||
rs3389531520 | 28 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000086.8:g.9333380T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.9333380T>C Locations: - p.Asn28Ser (Ensembl:ENSMUST00000170885) - c.83A>G (Ensembl:ENSMUST00000170885) Source type: large scale study Cross-references: | |||||||
rs3409794812 | 86 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.9323278G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.9323278G>T Locations: - p.Cys86Ter (Ensembl:ENSMUST00000170885) - c.258C>A (Ensembl:ENSMUST00000170885) Source type: large scale study Cross-references: | |||||||
rs3408462296 | 90 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000086.8:g.9323268T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.9323268T>C Locations: - p.Ile90Val (Ensembl:ENSMUST00000170885) - c.268A>G (Ensembl:ENSMUST00000170885) Source type: large scale study Cross-references: |