A2CG44 · A2CG44_MOUSE
- ProteinMothers against decapentaplegic homolog
- GeneSmad3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids233 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs864279841 | 35 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.63575112T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63575112T>C Locations: - p.His35Arg (Ensembl:ENSMUST00000154323) - c.104A>G (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3389050088 | 58 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.63575044T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63575044T>C Locations: - p.Asn58Asp (Ensembl:ENSMUST00000154323) - c.172A>G (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3400356290 | 73 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.63574876A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63574876A>T Locations: - p.Val73Glu (Ensembl:ENSMUST00000154323) - c.218T>A (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3389060187 | 131 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000075.7:g.63573450A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63573450A>T Locations: - p.Met131Lys (Ensembl:ENSMUST00000154323) - c.392T>A (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3400161582 | 136 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.63573435T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63573435T>G Locations: - p.Asp136Ala (Ensembl:ENSMUST00000154323) - c.407A>C (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3389020347 | 142 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000075.7:g.63570986G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63570986G>T Locations: - p.Leu142Ile (Ensembl:ENSMUST00000154323) - c.424C>A (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3389031564 | 150 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000075.7:g.63570962C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63570962C>T Locations: - p.Ala150Thr (Ensembl:ENSMUST00000154323) - c.448G>A (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3389054776 | 179 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.63562973A>T Codon: GTT/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63562973A>T Locations: - p.Val179Asp (Ensembl:ENSMUST00000154323) - c.536T>A (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3389060193 | 185 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.63562955G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63562955G>A Locations: - p.Ala185Val (Ensembl:ENSMUST00000154323) - c.554C>T (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: | |||||||
rs3400356273 | 187 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.63562950G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.63562950G>T Locations: - p.Gln187Lys (Ensembl:ENSMUST00000154323) - c.559C>A (Ensembl:ENSMUST00000154323) Source type: large scale study Cross-references: |