C0Z388 · C0Z388_ARATH
- ProteinAT5G04280 protein
- GeneRBGB3
- StatusUniProtKB unreviewed (TrEMBL)
- Amino acids272 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH00605995 | 18 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: 5:g.1194549G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194549G>T Locations: - p.Ala18Ser (EnsemblPlants:AT5G04280.2) - c.52G>T (EnsemblPlants:AT5G04280.2) - p.Ala18Ser (EnsemblPlants:AT5G04280.5) - c.52G>T (EnsemblPlants:AT5G04280.5) - p.Ala18Ser (EnsemblPlants:AT5G04280.4) - c.52G>T (EnsemblPlants:AT5G04280.4) - p.Ala18Ser (EnsemblPlants:AT5G04280.3) - c.52G>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1194706_C_T | 70 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 5:g.1194706C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194706C>T Locations: - p.Ala70Val (EnsemblPlants:AT5G04280.2) - c.209C>T (EnsemblPlants:AT5G04280.2) - p.Ala70Val (EnsemblPlants:AT5G04280.5) - c.209C>T (EnsemblPlants:AT5G04280.5) - p.Ala70Val (EnsemblPlants:AT5G04280.4) - c.209C>T (EnsemblPlants:AT5G04280.4) - p.Ala70Val (EnsemblPlants:AT5G04280.3) - c.209C>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
ENSVATH06920606 | 77 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: 5:g.1194726G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194726G>A Locations: - p.Gly77Arg (EnsemblPlants:AT5G04280.2) - c.229G>A (EnsemblPlants:AT5G04280.2) - p.Gly77Arg (EnsemblPlants:AT5G04280.5) - c.229G>A (EnsemblPlants:AT5G04280.5) - p.Gly77Arg (EnsemblPlants:AT5G04280.4) - c.229G>A (EnsemblPlants:AT5G04280.4) - p.Gly77Arg (EnsemblPlants:AT5G04280.3) - c.229G>A (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1194735_G_A | 80 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 5:g.1194735G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194735G>A Locations: - p.Gly80Ser (EnsemblPlants:AT5G04280.2) - c.238G>A (EnsemblPlants:AT5G04280.2) - p.Gly80Ser (EnsemblPlants:AT5G04280.5) - c.238G>A (EnsemblPlants:AT5G04280.5) - p.Gly80Ser (EnsemblPlants:AT5G04280.4) - c.238G>A (EnsemblPlants:AT5G04280.4) - p.Gly80Ser (EnsemblPlants:AT5G04280.3) - c.238G>A (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1194822_G_C | 109 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: 5:g.1194822G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194822G>C Locations: - p.Gly109Arg (EnsemblPlants:AT5G04280.2) - c.325G>C (EnsemblPlants:AT5G04280.2) - p.Gly109Arg (EnsemblPlants:AT5G04280.5) - c.325G>C (EnsemblPlants:AT5G04280.5) - p.Gly109Arg (EnsemblPlants:AT5G04280.4) - c.325G>C (EnsemblPlants:AT5G04280.4) - p.Gly109Arg (EnsemblPlants:AT5G04280.3) - c.325G>C (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
ENSVATH13917882 | 128 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: 5:g.1194879G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194879G>A Locations: - p.Asp128Asn (EnsemblPlants:AT5G04280.2) - c.382G>A (EnsemblPlants:AT5G04280.2) - p.Asp128Asn (EnsemblPlants:AT5G04280.5) - c.382G>A (EnsemblPlants:AT5G04280.5) - p.Asp128Asn (EnsemblPlants:AT5G04280.4) - c.382G>A (EnsemblPlants:AT5G04280.4) - p.Asp128Asn (EnsemblPlants:AT5G04280.3) - c.382G>A (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
ENSVATH10562211 | 131 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: 5:g.1194889T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194889T>C Locations: - p.Val131Ala (EnsemblPlants:AT5G04280.2) - c.392T>C (EnsemblPlants:AT5G04280.2) - p.Val131Ala (EnsemblPlants:AT5G04280.5) - c.392T>C (EnsemblPlants:AT5G04280.5) - p.Val131Ala (EnsemblPlants:AT5G04280.4) - c.392T>C (EnsemblPlants:AT5G04280.4) - p.Val131Ala (EnsemblPlants:AT5G04280.3) - c.392T>C (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
ENSVATH13917883 | 134 | Y>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 5:g.1194898A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194898A>T Locations: - p.Tyr134Phe (EnsemblPlants:AT5G04280.2) - c.401A>T (EnsemblPlants:AT5G04280.2) - p.Tyr134Phe (EnsemblPlants:AT5G04280.5) - c.401A>T (EnsemblPlants:AT5G04280.5) - p.Tyr134Phe (EnsemblPlants:AT5G04280.4) - c.401A>T (EnsemblPlants:AT5G04280.4) - p.Tyr134Phe (EnsemblPlants:AT5G04280.3) - c.401A>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1194990_A_T | 165 | S>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 5:g.1194990A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1194990A>T Locations: - p.Ser165Cys (EnsemblPlants:AT5G04280.2) - c.493A>T (EnsemblPlants:AT5G04280.2) - p.Ser165Cys (EnsemblPlants:AT5G04280.5) - c.493A>T (EnsemblPlants:AT5G04280.5) - p.Ser165Cys (EnsemblPlants:AT5G04280.4) - c.493A>T (EnsemblPlants:AT5G04280.4) - p.Ser165Cys (EnsemblPlants:AT5G04280.3) - c.493A>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
ENSVATH00605996 | 175 | Y>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 5:g.1195021A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1195021A>T Locations: - p.Tyr175Phe (EnsemblPlants:AT5G04280.2) - c.524A>T (EnsemblPlants:AT5G04280.2) - p.Tyr175Phe (EnsemblPlants:AT5G04280.5) - c.524A>T (EnsemblPlants:AT5G04280.5) - p.Tyr175Phe (EnsemblPlants:AT5G04280.4) - c.524A>T (EnsemblPlants:AT5G04280.4) - p.Tyr175Phe (EnsemblPlants:AT5G04280.3) - c.524A>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
ENSVATH00605998 | 176 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: 5:g.1195023G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1195023G>T Locations: - p.Ala176Ser (EnsemblPlants:AT5G04280.2) - c.526G>T (EnsemblPlants:AT5G04280.2) - p.Ala176Ser (EnsemblPlants:AT5G04280.5) - c.526G>T (EnsemblPlants:AT5G04280.5) - p.Ala176Ser (EnsemblPlants:AT5G04280.4) - c.526G>T (EnsemblPlants:AT5G04280.4) - p.Ala176Ser (EnsemblPlants:AT5G04280.3) - c.526G>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1195142_C_T | 183 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 5:g.1195142C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: Genomic location: 5:g.1195142C>T Locations: - p.Pro183Leu (EnsemblPlants:AT5G04280.2) - c.548C>T (EnsemblPlants:AT5G04280.2) - p.Pro183Leu (EnsemblPlants:AT5G04280.5) - c.548C>T (EnsemblPlants:AT5G04280.5) - p.Pro183Leu (EnsemblPlants:AT5G04280.4) - c.548C>T (EnsemblPlants:AT5G04280.4) - p.Pro183Leu (EnsemblPlants:AT5G04280.3) - c.548C>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1195280_C_G | 229 | A>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: 5:g.1195280C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1195280C>G Locations: - p.Ala229Gly (EnsemblPlants:AT5G04280.2) - c.686C>G (EnsemblPlants:AT5G04280.2) - p.Ala229Gly (EnsemblPlants:AT5G04280.5) - c.686C>G (EnsemblPlants:AT5G04280.5) - p.Ala229Gly (EnsemblPlants:AT5G04280.4) - c.686C>G (EnsemblPlants:AT5G04280.4) - p.Ala229Gly (EnsemblPlants:AT5G04280.3) - c.686C>G (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: | |||||||
tmp_5_1195373_G_T | 260 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: 5:g.1195373G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1195373G>T Locations: - p.Gly260Val (EnsemblPlants:AT5G04280.2) - c.779G>T (EnsemblPlants:AT5G04280.2) - p.Gly260Val (EnsemblPlants:AT5G04280.5) - c.779G>T (EnsemblPlants:AT5G04280.5) - p.Gly260Val (EnsemblPlants:AT5G04280.4) - c.779G>T (EnsemblPlants:AT5G04280.4) - p.Gly260Val (EnsemblPlants:AT5G04280.3) - c.779G>T (EnsemblPlants:AT5G04280.3) Source type: large scale study Cross-references: |