O55028 · BCKD_MOUSE
- ProteinBranched-chain alpha-ketoacid dehydrogenase kinase
- GeneBckdk
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids412 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs259681526 | 5 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000073.7:g.127504115T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504115T>A Locations: - p.Ser5Thr (Ensembl:ENSMUST00000071056) - c.13T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953463 | 9 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000073.7:g.127504128G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504128G>A Locations: - p.Ser9Asn (Ensembl:ENSMUST00000071056) - c.26G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs217194612 | 14 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000073.7:g.127504142T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504142T>A Locations: - p.Trp14Arg (Ensembl:ENSMUST00000071056) - c.40T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388940468 | 30 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000073.7:g.127504191G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504191G>C Locations: - p.Arg30Pro (Ensembl:ENSMUST00000071056) - c.89G>C (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953456 | 91 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127504549G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504549G>A Locations: - p.Gly91Asp (Ensembl:ENSMUST00000071056) - c.272G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388940467 | 96 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000073.7:g.127504564A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504564A>G Locations: - p.Gln96Arg (Ensembl:ENSMUST00000071056) - c.287A>G (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953485 | 102 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127504582T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504582T>A Locations: - p.Ile102Asn (Ensembl:ENSMUST00000071056) - c.305T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388956836 | 127 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127504924G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504924G>A Locations: - p.Glu127Lys (Ensembl:ENSMUST00000071056) - c.379G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953443 | 133 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127504942T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504942T>A Locations: - p.Phe133Ile (Ensembl:ENSMUST00000071056) - c.397T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388908165 | 133 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.127504944C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504944C>G Locations: - p.Phe133Leu (Ensembl:ENSMUST00000071056) - c.399C>G (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388946470 | 134 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000073.7:g.127504946A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127504946A>G Locations: - p.Gln134Arg (Ensembl:ENSMUST00000071056) - c.401A>G (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388930072 | 152 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127505076G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505076G>A Locations: - p.Cys152Tyr (Ensembl:ENSMUST00000071056) - c.455G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953622 | 171 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000073.7:g.127505134G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505134G>T Locations: - p.Glu171Asp (Ensembl:ENSMUST00000071056) - c.513G>T (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3546228553 | 187 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000073.7:g.127505260G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505260G>A Locations: - p.Arg187Gln (Ensembl:ENSMUST00000071056) - c.560G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388940427 | 208 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127505322T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505322T>A Locations: - p.Leu208Met (Ensembl:ENSMUST00000071056) - c.622T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953415 | 221 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127505539A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505539A>T Locations: - p.Ile221Phe (Ensembl:ENSMUST00000071056) - c.661A>T (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388908191 | 222 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000073.7:g.127505543G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505543G>A Locations: - p.Cys222Tyr (Ensembl:ENSMUST00000071056) - c.665G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388955949 | 228 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.127505561A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127505561A>T Locations: - p.Lys228Met (Ensembl:ENSMUST00000071056) - c.683A>T (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3546202301 | 240 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000073.7:g.127506393G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506393G>T Locations: - p.Arg240Leu (Ensembl:ENSMUST00000071056) - c.719G>T (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388945648 | 262 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.127506458T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506458T>A Locations: - p.Phe262Ile (Ensembl:ENSMUST00000071056) - c.784T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3398534063 | 273 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127506492T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506492T>A Locations: - p.Leu273Gln (Ensembl:ENSMUST00000071056) - c.818T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388950562 | 274 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000073.7:g.127506495C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506495C>A Locations: - p.Pro274His (Ensembl:ENSMUST00000071056) - c.821C>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388956886 | 285 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000073.7:g.127506621A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506621A>C Locations: - p.Met285Leu (Ensembl:ENSMUST00000071056) - c.853A>C (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388908223 | 290 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000073.7:g.127506636G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506636G>A Locations: - p.Asp290Asn (Ensembl:ENSMUST00000071056) - c.868G>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388953468 | 308 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127506691A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127506691A>T Locations: - p.Asp308Val (Ensembl:ENSMUST00000071056) - c.923A>T (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3398534055 | 313 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.127507096C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127507096C>G Locations: - p.Ile313Met (Ensembl:ENSMUST00000071056) - c.939C>G (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: | |||||||
rs3388945631 | 395 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.127507429T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.127507429T>A Locations: - p.Asp395Glu (Ensembl:ENSMUST00000071056) - c.1185T>A (Ensembl:ENSMUST00000071056) Source type: large scale study Cross-references: |