Q8CE90 · MP2K7_MOUSE
- ProteinDual specificity mitogen-activated protein kinase kinase 7
- GeneMap2k7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids535 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388961022 | 33 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000074.7:g.4289006G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4289006G>A Locations: - p.Asp33Asn (Ensembl:ENSMUST00000145165) - c.97G>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388972763 | 35 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.4289014C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4289014C>A Locations: - p.Ser35Arg (Ensembl:ENSMUST00000145165) - c.105C>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388964416 | 59 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000074.7:g.4293307T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4293307T>C Locations: - p.Leu59Pro (Ensembl:ENSMUST00000145165) - c.176T>C (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388945052 | 60 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.4293309C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4293309C>A Locations: - p.Gln60Lys (Ensembl:ENSMUST00000145165) - c.178C>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3546469813 | 85 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000074.7:g.4293384A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4293384A>C Locations: - p.Thr85Pro (Ensembl:ENSMUST00000145165) - c.253A>C (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388939369 | 209 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.4294239T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294239T>A Locations: - p.Phe209Tyr (Ensembl:ENSMUST00000145165) - c.626T>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3398410203 | 218 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.4294266_4294267insAGC Codon: TGT/TGAGCT Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294266_4294267insAGC Locations: - p.Cys218delinsTer (Ensembl:ENSMUST00000145165) - c.653_654insAGC (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3398410130 | 219 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.4294268G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294268G>C Locations: - p.Ala219Pro (Ensembl:ENSMUST00000145165) - c.655G>C (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388969108 | 261 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.4294484A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294484A>G Locations: - p.Lys261Glu (Ensembl:ENSMUST00000145165) - c.781A>G (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3413053458 | 274 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.4294524A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294524A>T Locations: - p.Lys274Met (Ensembl:ENSMUST00000145165) - c.821A>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388964392 | 296 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.4294590G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294590G>A Locations: - p.Cys296Tyr (Ensembl:ENSMUST00000145165) - c.887G>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388954786 | 310 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.4294720C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294720C>T Locations: - p.Pro310Leu (Ensembl:ENSMUST00000145165) - c.929C>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388945093 | 314 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000074.7:g.4294731G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294731G>A Locations: - p.Asp314Asn (Ensembl:ENSMUST00000145165) - c.940G>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388954787 | 317 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.4294741T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294741T>A Locations: - p.Ile317Asn (Ensembl:ENSMUST00000145165) - c.950T>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388969163 | 328 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.4294773C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294773C>A Locations: - p.Leu328Met (Ensembl:ENSMUST00000145165) - c.982C>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388964370 | 339 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.4294891A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294891A>G Locations: - p.Lys339Glu (Ensembl:ENSMUST00000145165) - c.1015A>G (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3507882432 | 363 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000074.7:g.4294964T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294964T>G Locations: - p.Met363Arg (Ensembl:ENSMUST00000145165) - c.1088T>G (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388960985 | 367 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000074.7:g.4294975G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4294975G>A Locations: - p.Gly367Arg (Ensembl:ENSMUST00000145165) - c.1099G>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388956240 | 394 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000074.7:g.4295703C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4295703C>A Locations: - p.Ser394Arg (Ensembl:ENSMUST00000145165) - c.1182C>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388968154 | 418 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.4295774A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4295774A>T Locations: - p.Glu418Val (Ensembl:ENSMUST00000145165) - c.1253A>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388964402 | 423 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000074.7:g.4295788A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4295788A>G Locations: - p.Ser423Gly (Ensembl:ENSMUST00000145165) - c.1267A>G (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3546272133 | 444 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000074.7:g.4299231C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4299231C>T Locations: - p.Pro444Leu (Ensembl:ENSMUST00000145165) - c.1331C>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs48099323 | 448 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.4299242C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.4299242C>T Locations: - p.Gln448Ter (Ensembl:ENSMUST00000145165) - c.1342C>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388965642 | 458 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000074.7:g.4299272T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4299272T>A Locations: - p.Cys458Ser (Ensembl:ENSMUST00000145165) - c.1372T>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388964414 | 505 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.4299498C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4299498C>T Locations: - p.Pro505Leu (Ensembl:ENSMUST00000145165) - c.1514C>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3388960978 | 509 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000074.7:g.4299509G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4299509G>T Locations: - p.Ala509Ser (Ensembl:ENSMUST00000145165) - c.1525G>T (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: | |||||||
rs3546276406 | 520 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000074.7:g.4299543G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.4299543G>A Locations: - p.Arg520His (Ensembl:ENSMUST00000145165) - c.1559G>A (Ensembl:ENSMUST00000145165) Source type: large scale study Cross-references: |