Q91ZK4 · DMBX1_MOUSE
- ProteinDiencephalon/mesencephalon homeobox protein 1
- GeneDmbx1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids381 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388701512 | 30 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000070.7:g.115780910C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115780910C>A Locations: - p.Gln30His (Ensembl:ENSMUST00000084338) - c.90G>T (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3389582392 | 33 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000070.7:g.115780903G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115780903G>A Locations: - p.His33Tyr (Ensembl:ENSMUST00000084338) - c.97C>T (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388704822 | 38 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.115780887C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115780887C>A Locations: - p.Arg38Leu (Ensembl:ENSMUST00000084338) - c.113G>T (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388702432 | 51 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.115780849C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115780849C>G Locations: - p.Ala51Pro (Ensembl:ENSMUST00000084338) - c.151G>C (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388696309 | 61 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.115777896T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115777896T>G Locations: - p.Glu61Ala (Ensembl:ENSMUST00000084338) - c.182A>C (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388696332 | 64 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.115777887T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115777887T>A Locations: - p.Tyr64Phe (Ensembl:ENSMUST00000084338) - c.191A>T (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3394567560 | 90 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.115777809A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115777809A>G Locations: - p.Phe90Ser (Ensembl:ENSMUST00000084338) - c.269T>C (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388706778 | 129 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000070.7:g.115777476T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115777476T>C Locations: - p.Lys129Arg (Ensembl:ENSMUST00000084338) - c.386A>G (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs1133213822 | 242 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000070.7:g.115775569G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115775569G>A Locations: - p.Ala242Val (Ensembl:ENSMUST00000084338) - c.725C>T (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs261520402 | 246 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.115775558C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115775558C>T Locations: - p.Gly246Ser (Ensembl:ENSMUST00000084338) - c.736G>A (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388704818 | 274 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.115775473G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115775473G>C Locations: - p.Ala274Gly (Ensembl:ENSMUST00000084338) - c.821C>G (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388690174 | 336 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000070.7:g.115775288A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115775288A>C Locations: - p.Ser336Ala (Ensembl:ENSMUST00000084338) - c.1006T>G (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388690395 | 369 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.115775188T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115775188T>A Locations: - p.Gln369Leu (Ensembl:ENSMUST00000084338) - c.1106A>T (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: | |||||||
rs3388704776 | 377 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000070.7:g.115775164T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.115775164T>C Locations: - p.Asp377Gly (Ensembl:ENSMUST00000084338) - c.1130A>G (Ensembl:ENSMUST00000084338) Source type: large scale study Cross-references: |