O09110 · MP2K3_MOUSE
- ProteinDual specificity mitogen-activated protein kinase kinase 3
- GeneMap2k3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids347 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs212223691 | 6 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000077.7:g.60823064G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60823064G>C Locations: - p.Ala6Pro (Ensembl:ENSMUST00000019076) - c.16G>C (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs243261471 | 7 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000077.7:g.60823068G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60823068G>A Locations: - p.Ser7Asn (Ensembl:ENSMUST00000019076) - c.20G>A (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389126637 | 68 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000077.7:g.60834013T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60834013T>A Locations: - p.Ser68Thr (Ensembl:ENSMUST00000019076) - c.202T>A (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389165051 | 95 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.60834316A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60834316A>G Locations: - p.Ile95Val (Ensembl:ENSMUST00000019076) - c.283A>G (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389161284 | 106 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60834349C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60834349C>T Locations: - p.Arg106Cys (Ensembl:ENSMUST00000019076) - c.316C>T (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389166092 | 109 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60834359T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60834359T>G Locations: - p.Met109Arg (Ensembl:ENSMUST00000019076) - c.326T>G (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389138743 | 167 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60835591G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60835591G>C Locations: - p.Gly167Ala (Ensembl:ENSMUST00000019076) - c.500G>C (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389162823 | 179 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000077.7:g.60836355C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60836355C>T Locations: - p.His179Tyr (Ensembl:ENSMUST00000019076) - c.535C>T (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389177103 | 247 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60837980T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60837980T>G Locations: - p.Val247Gly (Ensembl:ENSMUST00000019076) - c.740T>G (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389173481 | 259 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000077.7:g.60840747A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60840747A>G Locations: - p.Ile259Val (Ensembl:ENSMUST00000019076) - c.775A>G (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389163246 | 268 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60840775A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60840775A>G Locations: - p.Tyr268Cys (Ensembl:ENSMUST00000019076) - c.803A>G (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389161346 | 282 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60840816G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60840816G>A Locations: - p.Val282Met (Ensembl:ENSMUST00000019076) - c.844G>A (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3548942866 | 300 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000077.7:g.60840870G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60840870G>A Locations: - p.Asp300Asn (Ensembl:ENSMUST00000019076) - c.898G>A (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389161345 | 327 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000077.7:g.60842609T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60842609T>C Locations: - p.Leu327Ser (Ensembl:ENSMUST00000019076) - c.980T>C (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: | |||||||
rs3389134682 | 333 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.60842627C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60842627C>T Locations: - p.Thr333Ile (Ensembl:ENSMUST00000019076) - c.998C>T (Ensembl:ENSMUST00000019076) Source type: large scale study Cross-references: |