Q9STX2 · VEP1_ARATH
- Protein3-oxo-Delta(4,5)-steroid 5-beta-reductase
- GeneVEP1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids388 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
tmp_4_12565351_A_G | 15 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: 4:g.12565351A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: 4:g.12565351A>G Locations: - p.Lys15Arg (EnsemblPlants:AT4G24220.1) - c.44A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765925 | 32 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.12565401A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: 4:g.12565401A>G Locations: - p.Ile32Val (EnsemblPlants:AT4G24220.1) - c.94A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765926 | 85 | A>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: 4:g.12565561C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: 4:g.12565561C>G Locations: - p.Ala85Gly (EnsemblPlants:AT4G24220.1) - c.254C>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_12565857_A_G | 184 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: 4:g.12565857A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Genomic location: 4:g.12565857A>G Locations: - p.Ile184Val (EnsemblPlants:AT4G24220.1) - c.550A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00534869 | 221 | C>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 4:g.12565969G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: 4:g.12565969G>C Locations: - p.Cys221Ser (EnsemblPlants:AT4G24220.1) - c.662G>C (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765928 | 225 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 4:g.12565981C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: Genomic location: 4:g.12565981C>T Locations: - p.Ala225Val (EnsemblPlants:AT4G24220.1) - c.674C>T (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_12566202_T_A | 299 | Y>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 4:g.12566202T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566202T>A Locations: - p.Tyr299Asn (EnsemblPlants:AT4G24220.1) - c.895T>A (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_12566210_T_G | 301 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: 4:g.12566210T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566210T>G Locations: - p.Phe301Leu (EnsemblPlants:AT4G24220.1) - c.903T>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765929 | 314 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 4:g.12566247A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566247A>G Locations: - p.Lys314Glu (EnsemblPlants:AT4G24220.1) - c.940A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765930 | 315 | G>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: 4:g.12566251G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566251G>A Locations: - p.Gly315Glu (EnsemblPlants:AT4G24220.1) - c.944G>A (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765931 | 333 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 4:g.12566304A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566304A>G Locations: - p.Lys333Glu (EnsemblPlants:AT4G24220.1) - c.997A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_12566343_A_G | 346 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.12566343A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566343A>G Locations: - p.Ile346Val (EnsemblPlants:AT4G24220.1) - c.1036A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06765932 | 371 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: 4:g.12566418A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566418A>G Locations: - p.Asn371Asp (EnsemblPlants:AT4G24220.1) - c.1111A>G (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_12566434_C_T | 376 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.79) Somatic: No Accession: 4:g.12566434C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: 4:g.12566434C>T Locations: - p.Ser376Phe (EnsemblPlants:AT4G24220.1) - c.1127C>T (EnsemblPlants:AT4G24220.1) Source type: large scale study Cross-references: |