Q7TSH2 · KPBB_MOUSE
- ProteinPhosphorylase b kinase regulatory subunit beta
- GenePhkb
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1085 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388973937 | 9 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000074.7:g.86569714T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86569714T>G Locations: - p.Phe9Val (Ensembl:ENSMUST00000053771) - c.25T>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388967463 | 138 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000074.7:g.86623089A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86623089A>T Locations: - p.Thr138Ser (Ensembl:ENSMUST00000053771) - c.412A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3399369908 | 143 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000074.7:g.86623104T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86623104T>A Locations: - p.Ser143Thr (Ensembl:ENSMUST00000053771) - c.427T>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3507896326 | 167 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86628516T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86628516T>G Locations: - p.Val167Gly (Ensembl:ENSMUST00000053771) - c.500T>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388979433 | 222 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86648849G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86648849G>A Locations: - p.Gly222Ser (Ensembl:ENSMUST00000053771) - c.664G>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388990550 | 226 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000074.7:g.86648861C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86648861C>A Locations: - p.Leu226Met (Ensembl:ENSMUST00000053771) - c.676C>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388998265 | 241 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000074.7:g.86662072T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86662072T>G Locations: - p.Ile241Ser (Ensembl:ENSMUST00000053771) - c.722T>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388994634 | 278 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.86667553A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86667553A>T Locations: - p.Glu278Asp (Ensembl:ENSMUST00000053771) - c.834A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs240267811 | 302 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.77) Somatic: No Accession: NC_000074.7:g.86668880A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86668880A>T Locations: - p.Glu302Asp (Ensembl:ENSMUST00000053771) - c.906A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388999053 | 302 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000074.7:g.86668878G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86668878G>A Locations: - p.Glu302Lys (Ensembl:ENSMUST00000053771) - c.904G>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388998308 | 305 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000074.7:g.86668889C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86668889C>A Locations: - p.Phe305Leu (Ensembl:ENSMUST00000053771) - c.915C>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3399371279 | 310 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86668902G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86668902G>T Locations: - p.Asp310Tyr (Ensembl:ENSMUST00000053771) - c.928G>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3399408817 | 311 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000074.7:g.86668905A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86668905A>C Locations: - p.Lys311Gln (Ensembl:ENSMUST00000053771) - c.931A>C (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388998241 | 315 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.86668917A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.86668917A>T Locations: - p.Lys315Ter (Ensembl:ENSMUST00000053771) - c.943A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388991439 | 451 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86697544T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86697544T>C Locations: - p.Ile451Thr (Ensembl:ENSMUST00000053771) - c.1352T>C (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388995921 | 452 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000074.7:g.86697547G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86697547G>A Locations: - p.Ser452Asn (Ensembl:ENSMUST00000053771) - c.1355G>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388985290 | 453 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000074.7:g.86697549C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86697549C>T Locations: - p.Pro453Ser (Ensembl:ENSMUST00000053771) - c.1357C>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388999075 | 495 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86737694A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86737694A>G Locations: - p.Ser495Gly (Ensembl:ENSMUST00000053771) - c.1483A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388994655 | 504 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86738219C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86738219C>A Locations: - p.Thr504Lys (Ensembl:ENSMUST00000053771) - c.1511C>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388973915 | 507 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86738228T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86738228T>G Locations: - p.Ile507Ser (Ensembl:ENSMUST00000053771) - c.1520T>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3399452792 | 518 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86738260A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86738260A>T Locations: - p.Ile518Phe (Ensembl:ENSMUST00000053771) - c.1552A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388999032 | 522 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86738273C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86738273C>A Locations: - p.Pro522His (Ensembl:ENSMUST00000053771) - c.1565C>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388999032 | 522 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86738273C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86738273C>T Locations: - p.Pro522Leu (Ensembl:ENSMUST00000053771) - c.1565C>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3389003172 | 557 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86744021A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86744021A>T Locations: - p.Ile557Phe (Ensembl:ENSMUST00000053771) - c.1669A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388998424 | 583 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86744100T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86744100T>C Locations: - p.Val583Ala (Ensembl:ENSMUST00000053771) - c.1748T>C (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388967469 | 606 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.86745141G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86745141G>T Locations: - p.Arg606Leu (Ensembl:ENSMUST00000053771) - c.1817G>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388999029 | 625 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000074.7:g.86745682C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86745682C>A Locations: - p.Pro625Gln (Ensembl:ENSMUST00000053771) - c.1874C>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3389002232 | 687 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000074.7:g.86748223A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86748223A>T Locations: - p.Lys687Asn (Ensembl:ENSMUST00000053771) - c.2061A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs51666261 | 697 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000074.7:g.86748252C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86748252C>T Locations: - p.Ala697Val (Ensembl:ENSMUST00000053771) - c.2090C>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388990545 | 762 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.86750941T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.86750941T>A Locations: - p.Tyr762Ter (Ensembl:ENSMUST00000053771) - c.2286T>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388967473 | 771 | W>* | EVA | ||||
Consequence: missense Somatic: No Accession: NC_000074.7:g.86753086G>A Codon: TGG/TGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86753086G>A Locations: - p.Trp771Ter (Ensembl:ENSMUST00000053771) - c.2313G>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388973936 | 783 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.86753121A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86753121A>G Locations: - p.Lys783Arg (Ensembl:ENSMUST00000053771) - c.2348A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388995901 | 784 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000074.7:g.86753123G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86753123G>A Locations: - p.Val784Ile (Ensembl:ENSMUST00000053771) - c.2350G>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388996364 | 873 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.86770349C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86770349C>G Locations: - p.His873Asp (Ensembl:ENSMUST00000053771) - c.2617C>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388973968 | 921 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000074.7:g.86776338C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86776338C>A Locations: - p.Gln921Lys (Ensembl:ENSMUST00000053771) - c.2761C>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs47706048 | 922 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.86776341A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86776341A>G Locations: - p.Ile922Val (Ensembl:ENSMUST00000053771) - c.2764A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388995941 | 969 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000074.7:g.86783110A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86783110A>G Locations: - p.Met969Val (Ensembl:ENSMUST00000053771) - c.2905A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388996339 | 975 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.86783128G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86783128G>C Locations: - p.Val975Leu (Ensembl:ENSMUST00000053771) - c.2923G>C (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3399200650 | 982 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.86783149A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86783149A>G Locations: - p.Ile982Val (Ensembl:ENSMUST00000053771) - c.2944A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3399372637 | 983 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_000074.7:g.86783153A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86783153A>C Locations: - p.Asp983Ala (Ensembl:ENSMUST00000053771) - c.2948A>C (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3398459629 | 983 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.86783152G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86783152G>T Locations: - p.Asp983Tyr (Ensembl:ENSMUST00000053771) - c.2947G>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3389002274 | 1013 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000074.7:g.86785231A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86785231A>G Locations: - p.Lys1013Glu (Ensembl:ENSMUST00000053771) - c.3037A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388996355 | 1013 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000074.7:g.86785232A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86785232A>C Locations: - p.Lys1013Thr (Ensembl:ENSMUST00000053771) - c.3038A>C (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs254025537 | 1037 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000074.7:g.86785305C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86785305C>G Locations: - p.Ile1037Met (Ensembl:ENSMUST00000053771) - c.3111C>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388973931 | 1049 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000074.7:g.86785958A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86785958A>T Locations: - p.Thr1049Ser (Ensembl:ENSMUST00000053771) - c.3145A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3388950706 | 1058 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.95) Somatic: No Accession: NC_000074.7:g.86785985T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86785985T>A Locations: - p.Cys1058Ser (Ensembl:ENSMUST00000053771) - c.3172T>A (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3389003144 | 1071 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.86786025A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86786025A>G Locations: - p.Glu1071Gly (Ensembl:ENSMUST00000053771) - c.3212A>G (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: | |||||||
rs3389003149 | 1078 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000074.7:g.86786046A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.86786046A>T Locations: - p.Asn1078Ile (Ensembl:ENSMUST00000053771) - c.3233A>T (Ensembl:ENSMUST00000053771) Source type: large scale study Cross-references: |