Q5SVI9 · Q5SVI9_MOUSE
- Proteincalcium/calmodulin-dependent protein kinase
- GeneCamk2b
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids479 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389143289 | 89 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5951348C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5951348C>A Locations: - p.Val89Phe (Ensembl:ENSMUST00000066431) - c.265G>T (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389140842 | 95 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5947940C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5947940C>T Locations: - p.Gly95Asp (Ensembl:ENSMUST00000066431) - c.284G>A (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389105262 | 99 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5947929A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5947929A>C Locations: - p.Phe99Val (Ensembl:ENSMUST00000066431) - c.295T>G (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389153208 | 105 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.5947911T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.5947911T>A Locations: - p.Arg105Ter (Ensembl:ENSMUST00000066431) - c.313A>T (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389139588 | 139 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5940422G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5940422G>A Locations: - p.Pro139Ser (Ensembl:ENSMUST00000066431) - c.415C>T (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389140704 | 158 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5940364A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5940364A>G Locations: - p.Phe158Ser (Ensembl:ENSMUST00000066431) - c.473T>C (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389081256 | 198 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5940172A>G, NC_000077.7:g.5940172A>T Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5940172A>G, NC_000077.7:g.5940172A>T Locations: - p.Trp198Arg (Ensembl:ENSMUST00000066431) - c.592T>C (Ensembl:ENSMUST00000066431) - c.592T>A (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389139582 | 209 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5939645C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5939645C>G Locations: - p.Val209Leu (Ensembl:ENSMUST00000066431) - c.625G>C (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389081214 | 251 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.5939400G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.5939400G>A Locations: - p.Gln251Ter (Ensembl:ENSMUST00000066431) - c.751C>T (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389140735 | 259 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5939375T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5939375T>G Locations: - p.Lys259Thr (Ensembl:ENSMUST00000066431) - c.776A>C (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389140930 | 269 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5939346G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5939346G>A Locations: - p.His269Tyr (Ensembl:ENSMUST00000066431) - c.805C>T (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389136872 | 296 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5938972C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5938972C>A Locations: - p.Ala296Ser (Ensembl:ENSMUST00000066431) - c.886G>T (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3401593774 | 297 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5938967C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5938967C>G Locations: - p.Arg297Ser (Ensembl:ENSMUST00000066431) - c.891G>C (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389140856 | 339 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.5929694T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5929694T>G Locations: - p.Ile339Leu (Ensembl:ENSMUST00000066431) - c.1015A>C (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: | |||||||
rs3389136912 | 446 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.5922321C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.5922321C>T Locations: - p.Arg446His (Ensembl:ENSMUST00000066431) - c.1337G>A (Ensembl:ENSMUST00000066431) Source type: large scale study Cross-references: |