Q05728 · PUR5_ARATH
- ProteinPhosphoribosylformylglycinamidine cyclo-ligase, chloroplastic
- GenePUR5
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids389 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH02506328 | 6 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: 3:g.20386835G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386835G>T Locations: - p.Leu6Phe (EnsemblPlants:AT3G55010.1) - c.18G>T (EnsemblPlants:AT3G55010.1) - p.Leu6Phe (EnsemblPlants:AT3G55010.2) - c.18G>T (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00419944 | 18 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.84) Somatic: No Accession: 3:g.20386869G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386869G>A Locations: - p.Ala18Thr (EnsemblPlants:AT3G55010.1) - c.52G>A (EnsemblPlants:AT3G55010.1) - p.Ala18Thr (EnsemblPlants:AT3G55010.2) - c.52G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH06317323 | 26 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: 3:g.20386894C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386894C>T Locations: - p.Ser26Phe (EnsemblPlants:AT3G55010.1) - c.77C>T (EnsemblPlants:AT3G55010.1) - p.Ser26Phe (EnsemblPlants:AT3G55010.2) - c.77C>T (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH02506331 | 32 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: 3:g.20386912C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386912C>T Locations: - p.Pro32Leu (EnsemblPlants:AT3G55010.1) - c.95C>T (EnsemblPlants:AT3G55010.1) - p.Pro32Leu (EnsemblPlants:AT3G55010.2) - c.95C>T (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH06317324 | 35 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: 3:g.20386920G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386920G>A Locations: - p.Val35Ile (EnsemblPlants:AT3G55010.1) - c.103G>A (EnsemblPlants:AT3G55010.1) - p.Val35Ile (EnsemblPlants:AT3G55010.2) - c.103G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20386945_C_G | 43 | T>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: 3:g.20386945C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386945C>G Locations: - p.Thr43Arg (EnsemblPlants:AT3G55010.1) - c.128C>G (EnsemblPlants:AT3G55010.1) - p.Thr43Arg (EnsemblPlants:AT3G55010.2) - c.128C>G (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH02506332 | 56 | R>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 3:g.20386983C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386983C>G Locations: - p.Arg56Gly (EnsemblPlants:AT3G55010.1) - c.166C>G (EnsemblPlants:AT3G55010.1) - p.Arg56Gly (EnsemblPlants:AT3G55010.2) - c.166C>G (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH02506333 | 58 | D>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: 3:g.20386989G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386989G>C Locations: - p.Asp58His (EnsemblPlants:AT3G55010.1) - c.172G>C (EnsemblPlants:AT3G55010.1) - p.Asp58His (EnsemblPlants:AT3G55010.2) - c.172G>C (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12766435 | 60 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: 3:g.20386995G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20386995G>A Locations: - p.Asp60Asn (EnsemblPlants:AT3G55010.1) - c.178G>A (EnsemblPlants:AT3G55010.1) - p.Asp60Asn (EnsemblPlants:AT3G55010.2) - c.178G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH06317325 | 125 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: 3:g.20387277T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387277T>C Locations: - p.Ile125Thr (EnsemblPlants:AT3G55010.1) - c.374T>C (EnsemblPlants:AT3G55010.1) - p.Ile125Thr (EnsemblPlants:AT3G55010.2) - c.374T>C (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12766440 | 134 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 3:g.20387374G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387374G>A Locations: - p.Val134Ile (EnsemblPlants:AT3G55010.1) - c.400G>A (EnsemblPlants:AT3G55010.1) - p.Val134Ile (EnsemblPlants:AT3G55010.2) - c.400G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20387601_G_A | 182 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: 3:g.20387601G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387601G>A Locations: - p.Ala182Thr (EnsemblPlants:AT3G55010.1) - c.544G>A (EnsemblPlants:AT3G55010.1) - p.Ala182Thr (EnsemblPlants:AT3G55010.2) - c.544G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20387774_A_G | 212 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: 3:g.20387774A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387774A>G Locations: - p.Lys212Arg (EnsemblPlants:AT3G55010.1) - c.635A>G (EnsemblPlants:AT3G55010.1) - p.Lys212Arg (EnsemblPlants:AT3G55010.2) - c.635A>G (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20387777_C_G | 213 | T>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.74) Somatic: No Accession: 3:g.20387777C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387777C>G Locations: - p.Thr213Ser (EnsemblPlants:AT3G55010.1) - c.638C>G (EnsemblPlants:AT3G55010.1) - p.Thr213Ser (EnsemblPlants:AT3G55010.2) - c.638C>G (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00419956 | 215 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 3:g.20387783T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387783T>C Locations: - p.Val215Ala (EnsemblPlants:AT3G55010.1) - c.644T>C (EnsemblPlants:AT3G55010.1) - p.Val215Ala (EnsemblPlants:AT3G55010.2) - c.644T>C (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20387799_C_A | 220 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: 3:g.20387799C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387799C>A Locations: - p.Asn220Lys (EnsemblPlants:AT3G55010.1) - c.660C>A (EnsemblPlants:AT3G55010.1) - p.Asn220Lys (EnsemblPlants:AT3G55010.2) - c.660C>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20387815_G_A | 226 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 3:g.20387815G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387815G>A Locations: - p.Val226Ile (EnsemblPlants:AT3G55010.1) - c.676G>A (EnsemblPlants:AT3G55010.1) - p.Val226Ile (EnsemblPlants:AT3G55010.2) - c.676G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00419960 | 255 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: 3:g.20387977G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20387977G>T Locations: - p.Lys255Asn (EnsemblPlants:AT3G55010.1) - c.765G>T (EnsemblPlants:AT3G55010.1) - p.Lys255Asn (EnsemblPlants:AT3G55010.2) - c.765G>T (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH06317331 | 309 | P>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 3:g.20388221C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: Genomic location: 3:g.20388221C>A Locations: - p.Pro309Gln (EnsemblPlants:AT3G55010.1) - c.926C>A (EnsemblPlants:AT3G55010.1) - p.Pro309Gln (EnsemblPlants:AT3G55010.2) - c.926C>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00419962 | 320 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 3:g.20388253G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 3:g.20388253G>A Locations: - p.Ala320Thr (EnsemblPlants:AT3G55010.1) - c.958G>A (EnsemblPlants:AT3G55010.1) - p.Ala320Thr (EnsemblPlants:AT3G55010.2) - c.958G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20388287_A_G | 331 | Q>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 3:g.20388287A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: Genomic location: 3:g.20388287A>G Locations: - p.Gln331Arg (EnsemblPlants:AT3G55010.1) - c.992A>G (EnsemblPlants:AT3G55010.1) - p.Gln331Arg (EnsemblPlants:AT3G55010.2) - c.992A>G (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12766462 | 362 | R>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 3:g.20388464G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: 3:g.20388464G>A Locations: - p.Arg362Gln (EnsemblPlants:AT3G55010.1) - c.1085G>A (EnsemblPlants:AT3G55010.1) - p.Arg362Gln (EnsemblPlants:AT3G55010.2) - c.1085G>A (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
ENSVATH06317332 | 371 | D>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 3:g.20388491A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: 3:g.20388491A>C Locations: - p.Asp371Ala (EnsemblPlants:AT3G55010.1) - c.1112A>C (EnsemblPlants:AT3G55010.1) - p.Asp371Ala (EnsemblPlants:AT3G55010.2) - c.1112A>C (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: | |||||||
tmp_3_20388533_G_C | 385 | G>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 3:g.20388533G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: Genomic location: 3:g.20388533G>C Locations: - p.Gly385Ala (EnsemblPlants:AT3G55010.1) - c.1154G>C (EnsemblPlants:AT3G55010.1) - p.Gly385Ala (EnsemblPlants:AT3G55010.2) - c.1154G>C (EnsemblPlants:AT3G55010.2) Source type: large scale study Cross-references: |