Q9Z1W9 · STK39_MOUSE
- ProteinSTE20/SPS1-related proline-alanine-rich protein kinase
- GeneStk39
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids556 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs234909396 | 14 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.68302182A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68302182A>G Locations: - p.Ser14Pro (Ensembl:ENSMUST00000102715) - c.40T>C (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388555100 | 52 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000068.8:g.68302068C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68302068C>A Locations: - p.Ala52Ser (Ensembl:ENSMUST00000102715) - c.154G>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388553155 | 87 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68240471C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68240471C>T Locations: - p.Ala87Thr (Ensembl:ENSMUST00000102715) - c.259G>A (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388557319 | 113 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68240392G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68240392G>A Locations: - p.Thr113Met (Ensembl:ENSMUST00000102715) - c.338C>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388553448 | 118 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68240378G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68240378G>T Locations: - p.Leu118Ile (Ensembl:ENSMUST00000102715) - c.352C>A (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388548245 | 214 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.68221280C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68221280C>A Locations: - p.Glu214Asp (Ensembl:ENSMUST00000102715) - c.642G>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388553458 | 228 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68199430G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68199430G>T Locations: - p.Phe228Leu (Ensembl:ENSMUST00000102715) - c.684C>A (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388555017 | 299 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68196532T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68196532T>G Locations: - p.Gln299Pro (Ensembl:ENSMUST00000102715) - c.896A>C (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388557900 | 348 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.68189347A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68189347A>G Locations: - p.Phe348Leu (Ensembl:ENSMUST00000102715) - c.1042T>C (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388557857 | 375 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68189160T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68189160T>G Locations: - p.Lys375Gln (Ensembl:ENSMUST00000102715) - c.1123A>C (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388559826 | 383 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68144925C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68144925C>A Locations: - p.Ser383Ile (Ensembl:ENSMUST00000102715) - c.1148G>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388559773 | 397 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68144884T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68144884T>A Locations: - p.Ser397Cys (Ensembl:ENSMUST00000102715) - c.1189A>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388555775 | 401 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68144870C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68144870C>A Locations: - p.Met401Ile (Ensembl:ENSMUST00000102715) - c.1203G>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388558933 | 406 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68144857C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68144857C>T Locations: - p.Glu406Lys (Ensembl:ENSMUST00000102715) - c.1216G>A (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388557858 | 449 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000068.8:g.68137448T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68137448T>A Locations: - p.Gln449Leu (Ensembl:ENSMUST00000102715) - c.1346A>T (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388555695 | 463 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.68137407C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68137407C>G Locations: - p.Val463Leu (Ensembl:ENSMUST00000102715) - c.1387G>C (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388551401 | 543 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68042305A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68042305A>T Locations: - p.Asp543Glu (Ensembl:ENSMUST00000102715) - c.1629T>A (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: | |||||||
rs3388559836 | 552 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.68042279T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.68042279T>C Locations: - p.Gln552Arg (Ensembl:ENSMUST00000102715) - c.1655A>G (Ensembl:ENSMUST00000102715) Source type: large scale study Cross-references: |