P43021 · NODAL_MOUSE
- ProteinNodal
- GeneNodal
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids354 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389102737 | 23 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000076.7:g.61254146C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61254146C>T Locations: - p.Pro23Leu (Ensembl:ENSMUST00000049339) - c.68C>T (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs248570317 | 70 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000076.7:g.61258772A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258772A>G Locations: - p.Thr70Ala (Ensembl:ENSMUST00000049339) - c.208A>G (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs235806868 | 91 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000076.7:g.61258835T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258835T>C Locations: - p.Trp91Arg (Ensembl:ENSMUST00000049339) - c.271T>C (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389080376 | 92 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.61258838G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258838G>A Locations: - p.Ala92Thr (Ensembl:ENSMUST00000049339) - c.274G>A (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389098846 | 92 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000076.7:g.61258839C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258839C>T Locations: - p.Ala92Val (Ensembl:ENSMUST00000049339) - c.275C>T (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs224515847 | 100 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000076.7:g.61258862G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258862G>C Locations: - p.Gly100Arg (Ensembl:ENSMUST00000049339) - c.298G>C (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs257194383 | 118 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000076.7:g.61258916G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258916G>A Locations: - p.Ala118Thr (Ensembl:ENSMUST00000049339) - c.352G>A (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389112660 | 121 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000076.7:g.61258926A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258926A>G Locations: - p.Asp121Gly (Ensembl:ENSMUST00000049339) - c.362A>G (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389044779 | 131 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000076.7:g.61258957G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61258957G>C Locations: - p.Glu131Asp (Ensembl:ENSMUST00000049339) - c.393G>C (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs260031776 | 186 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000076.7:g.61259120T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259120T>C Locations: - p.Tyr186His (Ensembl:ENSMUST00000049339) - c.556T>C (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389069860 | 189 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000076.7:g.61259129C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259129C>T Locations: - p.Pro189Ser (Ensembl:ENSMUST00000049339) - c.565C>T (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389102799 | 194 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000076.7:g.61259145G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259145G>A Locations: - p.Ser194Asn (Ensembl:ENSMUST00000049339) - c.581G>A (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389098842 | 211 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000076.7:g.61259195C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259195C>A Locations: - p.Leu211Ile (Ensembl:ENSMUST00000049339) - c.631C>A (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389110781 | 214 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.61259204G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259204G>A Locations: - p.Ala214Thr (Ensembl:ENSMUST00000049339) - c.640G>A (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389076110 | 222 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.61259228A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259228A>T Locations: - p.Ser222Cys (Ensembl:ENSMUST00000049339) - c.664A>T (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389076062 | 288 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.61259427C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61259427C>G Locations: - p.Pro288Arg (Ensembl:ENSMUST00000049339) - c.863C>G (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: | |||||||
rs3389110795 | 315 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.61260293G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.61260293G>A Locations: - p.Val315Ile (Ensembl:ENSMUST00000049339) - c.943G>A (Ensembl:ENSMUST00000049339) Source type: large scale study Cross-references: |