P37271 · PSY_ARATH
- ProteinPhytoene synthase 1, chloroplastic
- GenePSY1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids422 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH06980635 | 20 | M>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: 5:g.5662030T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5662030T>C Locations: - p.Met20Val (EnsemblPlants:AT5G17230.4) - c.58A>G (EnsemblPlants:AT5G17230.4) - p.Met20Val (EnsemblPlants:AT5G17230.1) - c.58A>G (EnsemblPlants:AT5G17230.1) - p.Met20Val (EnsemblPlants:AT5G17230.2) - c.58A>G (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
ENSVATH10802518 | 21 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: 5:g.5662026T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: 5:g.5662026T>C Locations: - p.Asn21Ser (EnsemblPlants:AT5G17230.4) - c.62A>G (EnsemblPlants:AT5G17230.4) - p.Asn21Ser (EnsemblPlants:AT5G17230.1) - c.62A>G (EnsemblPlants:AT5G17230.1) - p.Asn21Ser (EnsemblPlants:AT5G17230.2) - c.62A>G (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5662008_C_T | 27 | R>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: 5:g.5662008C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5662008C>T Locations: - p.Arg27Lys (EnsemblPlants:AT5G17230.4) - c.80G>A (EnsemblPlants:AT5G17230.4) - p.Arg27Lys (EnsemblPlants:AT5G17230.1) - c.80G>A (EnsemblPlants:AT5G17230.1) - p.Arg27Lys (EnsemblPlants:AT5G17230.2) - c.80G>A (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
ENSVATH10802517 | 49 | K>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: 5:g.5661942T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661942T>G Locations: - p.Lys49Thr (EnsemblPlants:AT5G17230.4) - c.146A>C (EnsemblPlants:AT5G17230.4) - p.Lys49Thr (EnsemblPlants:AT5G17230.1) - c.146A>C (EnsemblPlants:AT5G17230.1) - p.Lys49Thr (EnsemblPlants:AT5G17230.2) - c.146A>C (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5661935_T_C | 51 | I>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: 5:g.5661935T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661935T>C Locations: - p.Ile51Met (EnsemblPlants:AT5G17230.4) - c.153A>G (EnsemblPlants:AT5G17230.4) - p.Ile51Met (EnsemblPlants:AT5G17230.1) - c.153A>G (EnsemblPlants:AT5G17230.1) - p.Ile51Met (EnsemblPlants:AT5G17230.2) - c.153A>G (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5661934_G_T | 52 | P>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: 5:g.5661934G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661934G>T Locations: - p.Pro52Thr (EnsemblPlants:AT5G17230.4) - c.154C>A (EnsemblPlants:AT5G17230.4) - p.Pro52Thr (EnsemblPlants:AT5G17230.1) - c.154C>A (EnsemblPlants:AT5G17230.1) - p.Pro52Thr (EnsemblPlants:AT5G17230.2) - c.154C>A (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5661915_A_G | 58 | F>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: 5:g.5661915A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661915A>G Locations: - p.Phe58Ser (EnsemblPlants:AT5G17230.4) - c.173T>C (EnsemblPlants:AT5G17230.4) - p.Phe58Ser (EnsemblPlants:AT5G17230.1) - c.173T>C (EnsemblPlants:AT5G17230.1) - p.Phe58Ser (EnsemblPlants:AT5G17230.2) - c.173T>C (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5661912_A_G | 59 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.85) Somatic: No Accession: 5:g.5661912A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661912A>G Locations: - p.Val59Ala (EnsemblPlants:AT5G17230.4) - c.176T>C (EnsemblPlants:AT5G17230.4) - p.Val59Ala (EnsemblPlants:AT5G17230.1) - c.176T>C (EnsemblPlants:AT5G17230.1) - p.Val59Ala (EnsemblPlants:AT5G17230.2) - c.176T>C (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00626828 | 60 | R>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: 5:g.5661909C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661909C>A Locations: - p.Arg60Met (EnsemblPlants:AT5G17230.4) - c.179G>T (EnsemblPlants:AT5G17230.4) - p.Arg60Met (EnsemblPlants:AT5G17230.1) - c.179G>T (EnsemblPlants:AT5G17230.1) - p.Arg60Met (EnsemblPlants:AT5G17230.2) - c.179G>T (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5661889_C_T | 67 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: 5:g.5661889C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5661889C>T Locations: - p.Gly67Ser (EnsemblPlants:AT5G17230.4) - c.199G>A (EnsemblPlants:AT5G17230.4) - p.Gly67Ser (EnsemblPlants:AT5G17230.1) - c.199G>A (EnsemblPlants:AT5G17230.1) - p.Gly67Ser (EnsemblPlants:AT5G17230.2) - c.199G>A (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5660619_T_G | 245 | D>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 5:g.5660619T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5660619T>G Locations: - p.Asp245Ala (EnsemblPlants:AT5G17230.4) - c.734A>C (EnsemblPlants:AT5G17230.4) - p.Asp245Ala (EnsemblPlants:AT5G17230.1) - c.734A>C (EnsemblPlants:AT5G17230.1) - p.Asp245Ala (EnsemblPlants:AT5G17230.2) - c.734A>C (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
ENSVATH10802334 | 282 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 5:g.5660509C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5660509C>A Locations: - p.Ala282Ser (EnsemblPlants:AT5G17230.4) - c.844G>T (EnsemblPlants:AT5G17230.4) - p.Ala282Ser (EnsemblPlants:AT5G17230.1) - c.844G>T (EnsemblPlants:AT5G17230.1) - p.Ala282Ser (EnsemblPlants:AT5G17230.2) - c.844G>T (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: | |||||||
tmp_5_5660189_T_A | 339 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 5:g.5660189T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5660189T>A Locations: - p.Lys339Ile (EnsemblPlants:AT5G17230.4) - c.1016A>T (EnsemblPlants:AT5G17230.4) - p.Lys339Ile (EnsemblPlants:AT5G17230.1) - c.1016A>T (EnsemblPlants:AT5G17230.1) - p.Lys339Ile (EnsemblPlants:AT5G17230.2) - c.1016A>T (EnsemblPlants:AT5G17230.2) Source type: large scale study Cross-references: |