Q8CEQ0 · CDKL1_MOUSE
- ProteinCyclin-dependent kinase-like 1
- GeneCdkl1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids352 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389235097 | 55 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000078.7:g.69836766G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.69836766G>A Locations: - p.Leu55Phe (Ensembl:ENSMUST00000021377) - c.163C>T (Ensembl:ENSMUST00000021377) Source type: large scale study Cross-references: | |||||||
rs3549525972 | 77 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.69816235G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.69816235G>A Locations: - p.His77Tyr (Ensembl:ENSMUST00000021377) - c.229C>T (Ensembl:ENSMUST00000021377) Source type: large scale study Cross-references: | |||||||
rs3389252157 | 143 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000078.7:g.69804008C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.69804008C>T Locations: - p.Cys143Tyr (Ensembl:ENSMUST00000021377) - c.428G>A (Ensembl:ENSMUST00000021377) Source type: large scale study Cross-references: | |||||||
rs3389202409 | 181 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000078.7:g.69803334G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.69803334G>A Locations: - p.Pro181Ser (Ensembl:ENSMUST00000021377) - c.541C>T (Ensembl:ENSMUST00000021377) Source type: large scale study Cross-references: | |||||||
rs3389240909 | 263 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000078.7:g.69797500A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.69797500A>C Locations: - p.Phe263Val (Ensembl:ENSMUST00000021377) - c.787T>G (Ensembl:ENSMUST00000021377) Source type: large scale study Cross-references: | |||||||
rs3389255504 | 342 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000078.7:g.69794111G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.69794111G>A Locations: - p.Thr342Ile (Ensembl:ENSMUST00000021377) - c.1025C>T (Ensembl:ENSMUST00000021377) Source type: large scale study Cross-references: |