Q8VYE4 · PTR12_ARATH
- ProteinProtein NRT1/ PTR FAMILY 4.5
- GeneNPF4.5
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids567 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH13976748 | 12 | W>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9389817A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389817A>G Locations: - p.Trp12Arg (EnsemblPlants:AT1G27040.1) - c.34T>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389805_C_G | 16 | A>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9389805C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389805C>G Locations: - p.Ala16Pro (EnsemblPlants:AT1G27040.1) - c.46G>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389780_A_T | 24 | L>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 1:g.9389780A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: 1:g.9389780A>T Locations: - p.Leu24Ter (EnsemblPlants:AT1G27040.1) - c.71T>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649305 | 27 | R>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.9389772G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389772G>A Locations: - p.Arg27Cys (EnsemblPlants:AT1G27040.1) - c.79C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389762_C_T | 30 | G>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9389762C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389762C>T Locations: - p.Gly30Glu (EnsemblPlants:AT1G27040.1) - c.89G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01109151 | 32 | L>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: 1:g.9389756A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389756A>G Locations: - p.Leu32Pro (EnsemblPlants:AT1G27040.1) - c.95T>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01109148 | 39 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.9389608G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389608G>A Locations: - p.Ala39Val (EnsemblPlants:AT1G27040.1) - c.116C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111850 | 42 | I>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.9389598T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389598T>C Locations: - p.Ile42Met (EnsemblPlants:AT1G27040.1) - c.126A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389573_T_A | 51 | N>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 1:g.9389573T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389573T>A Locations: - p.Asn51Tyr (EnsemblPlants:AT1G27040.1) - c.151A>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649301 | 52 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.9389570C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389570C>T Locations: - p.Ala52Thr (EnsemblPlants:AT1G27040.1) - c.154G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13976746 | 60 | K>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: 1:g.9389545T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389545T>A Locations: - p.Lys60Met (EnsemblPlants:AT1G27040.1) - c.179A>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649298 | 66 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9389527G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389527G>A Locations: - p.Ser66Phe (EnsemblPlants:AT1G27040.1) - c.197C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389490_C_T | 78 | M>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9389490C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389490C>T Locations: - p.Met78Ile (EnsemblPlants:AT1G27040.1) - c.234G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649296 | 97 | S>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.9389434G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389434G>C Locations: - p.Ser97Cys (EnsemblPlants:AT1G27040.1) - c.290C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389423_T_G | 101 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 1:g.9389423T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389423T>G Locations: - p.Ile101Leu (EnsemblPlants:AT1G27040.1) - c.301A>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9389407_G_A | 106 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9389407G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389407G>A Locations: - p.Ala106Val (EnsemblPlants:AT1G27040.1) - c.317C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649295 | 107 | S>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 1:g.9389405A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9389405A>G Locations: - p.Ser107Pro (EnsemblPlants:AT1G27040.1) - c.319T>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649241 | 113 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9388351G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388351G>C Locations: - p.Leu113Val (EnsemblPlants:AT1G27040.1) - c.337C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649240 | 136 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 1:g.9388280C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388280C>G Locations: - p.Leu136Phe (EnsemblPlants:AT1G27040.1) - c.408G>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9388279_G_C | 137 | R>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: 1:g.9388279G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388279G>C Locations: - p.Arg137Gly (EnsemblPlants:AT1G27040.1) - c.409C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13976669 | 139 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 1:g.9388271C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388271C>A Locations: - p.Glu139Asp (EnsemblPlants:AT1G27040.1) - c.417G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13976668 | 152 | G>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9388233C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388233C>T Locations: - p.Gly152Glu (EnsemblPlants:AT1G27040.1) - c.455G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111669 | 158 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.9388216G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388216G>T Locations: - p.Leu158Ile (EnsemblPlants:AT1G27040.1) - c.472C>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9388186_G_A | 168 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9388186G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388186G>A Locations: - p.Pro168Ser (EnsemblPlants:AT1G27040.1) - c.502C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9388170_T_C | 173 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.9388170T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388170T>C Locations: - p.Glu173Gly (EnsemblPlants:AT1G27040.1) - c.518A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00045835 | 178 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: 1:g.9388156C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388156C>T Locations: - p.Gly178Ser (EnsemblPlants:AT1G27040.1) - c.532G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649235 | 195 | F>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9388105A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388105A>C Locations: - p.Phe195Val (EnsemblPlants:AT1G27040.1) - c.583T>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9388102_A_C | 196 | C>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 1:g.9388102A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388102A>C Locations: - p.Cys196Gly (EnsemblPlants:AT1G27040.1) - c.586T>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9388101_C_T | 196 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: 1:g.9388101C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388101C>T Locations: - p.Cys196Tyr (EnsemblPlants:AT1G27040.1) - c.587G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111668 | 206 | T>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9388071G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388071G>C Locations: - p.Thr206Arg (EnsemblPlants:AT1G27040.1) - c.617C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01109128 | 211 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: 1:g.9388057T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388057T>G Locations: - p.Ile211Leu (EnsemblPlants:AT1G27040.1) - c.631A>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00045834 | 213 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: 1:g.9388049G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388049G>T Locations: - p.Asp213Glu (EnsemblPlants:AT1G27040.1) - c.639C>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9388000_G_A | 230 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: 1:g.9388000G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9388000G>A Locations: - p.Leu230Phe (EnsemblPlants:AT1G27040.1) - c.688C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111667 | 232 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: 1:g.9387994T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387994T>C Locations: - p.Ile232Val (EnsemblPlants:AT1G27040.1) - c.694A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01109126 | 236 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 1:g.9387982G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387982G>T Locations: - p.Leu236Ile (EnsemblPlants:AT1G27040.1) - c.706C>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649231 | 264 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 1:g.9387807T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387807T>C Locations: - p.Ile264Val (EnsemblPlants:AT1G27040.1) - c.790A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649230 | 268 | S>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 1:g.9387794G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387794G>A Locations: - p.Ser268Leu (EnsemblPlants:AT1G27040.1) - c.803C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00045832 | 277 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: 1:g.9387768T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387768T>C Locations: - p.Thr277Ala (EnsemblPlants:AT1G27040.1) - c.829A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387738_C_T | 287 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: 1:g.9387738C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387738C>T Locations: - p.Glu287Lys (EnsemblPlants:AT1G27040.1) - c.859G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387731_G_A | 289 | T>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 1:g.9387731G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387731G>A Locations: - p.Thr289Met (EnsemblPlants:AT1G27040.1) - c.866C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111591 | 296 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: 1:g.9387710T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387710T>C Locations: - p.Asn296Ser (EnsemblPlants:AT1G27040.1) - c.887A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111590 | 300 | C>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.9387698C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387698C>G Locations: - p.Cys300Ser (EnsemblPlants:AT1G27040.1) - c.899G>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387639_G_C | 320 | Q>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 1:g.9387639G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387639G>C Locations: - p.Gln320Glu (EnsemblPlants:AT1G27040.1) - c.958C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387629_T_G | 323 | D>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9387629T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387629T>G Locations: - p.Asp323Ala (EnsemblPlants:AT1G27040.1) - c.968A>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387628_G_C | 323 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.9387628G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387628G>C Locations: - p.Asp323Glu (EnsemblPlants:AT1G27040.1) - c.969C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387593_C_A | 335 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 1:g.9387593C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387593C>A Locations: - p.Gly335Val (EnsemblPlants:AT1G27040.1) - c.1004G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111589 | 336 | C>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.9387591A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387591A>T Locations: - p.Cys336Ser (EnsemblPlants:AT1G27040.1) - c.1006T>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387572_C_T | 342 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.9387572C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387572C>T Locations: - p.Cys342Tyr (EnsemblPlants:AT1G27040.1) - c.1025G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387551_G_A | 349 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387551G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387551G>A Locations: - p.Thr349Ile (EnsemblPlants:AT1G27040.1) - c.1046C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111587 | 361 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.9387516T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387516T>C Locations: - p.Lys361Glu (EnsemblPlants:AT1G27040.1) - c.1081A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649228 | 367 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: 1:g.9387498C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387498C>T Locations: - p.Val367Ile (EnsemblPlants:AT1G27040.1) - c.1099G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111586 | 372 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387481T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387481T>A Locations: - p.Leu372Phe (EnsemblPlants:AT1G27040.1) - c.1116A>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387476_A_C,G | 374 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 1:g.9387476A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387476A>G Locations: - p.Val374Ala (EnsemblPlants:AT1G27040.1) - c.1121T>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387476_A_C,G | 374 | V>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387476A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387476A>C Locations: - p.Val374Gly (EnsemblPlants:AT1G27040.1) - c.1121T>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387477_C_G | 374 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.9387477C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387477C>G Locations: - p.Val374Leu (EnsemblPlants:AT1G27040.1) - c.1120G>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649227 | 378 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: 1:g.9387465C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387465C>T Locations: - p.Val378Ile (EnsemblPlants:AT1G27040.1) - c.1132G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649224 | 382 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: 1:g.9387453T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387453T>C Locations: - p.Ile382Val (EnsemblPlants:AT1G27040.1) - c.1144A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387387_C_T | 404 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387387C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387387C>T Locations: - p.Gly404Ser (EnsemblPlants:AT1G27040.1) - c.1210G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387339_C_A | 420 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 1:g.9387339C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387339C>A Locations: - p.Val420Leu (EnsemblPlants:AT1G27040.1) - c.1258G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649221 | 443 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.9387268G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387268G>C Locations: - p.Asp443Glu (EnsemblPlants:AT1G27040.1) - c.1329C>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649219 | 444 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.9387266G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387266G>A Locations: - p.Ser444Phe (EnsemblPlants:AT1G27040.1) - c.1331C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649220 | 444 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.9387267A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387267A>T Locations: - p.Ser444Thr (EnsemblPlants:AT1G27040.1) - c.1330T>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387246_T_A | 451 | T>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.9387246T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387246T>A Locations: - p.Thr451Ser (EnsemblPlants:AT1G27040.1) - c.1351A>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01109120 | 454 | W>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387236C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387236C>A Locations: - p.Trp454Leu (EnsemblPlants:AT1G27040.1) - c.1361G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387222_A_C | 459 | Y>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387222A>C Codon: TAT/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387222A>C Locations: - p.Tyr459Asp (EnsemblPlants:AT1G27040.1) - c.1375T>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111585 | 477 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9387166G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387166G>T Locations: - p.Phe477Leu (EnsemblPlants:AT1G27040.1) - c.1431C>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00045822 | 480 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9387157T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387157T>G Locations: - p.Glu480Asp (EnsemblPlants:AT1G27040.1) - c.1440A>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387123_G_A | 492 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.9387123G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387123G>A Locations: - p.Leu492Phe (EnsemblPlants:AT1G27040.1) - c.1474C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01109119 | 494 | W>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.9387116C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387116C>A Locations: - p.Trp494Leu (EnsemblPlants:AT1G27040.1) - c.1481G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387077_A_G | 507 | M>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.9387077A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387077A>G Locations: - p.Met507Thr (EnsemblPlants:AT1G27040.1) - c.1520T>C (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9387057_C_T | 514 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 1:g.9387057C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387057C>T Locations: - p.Val514Ile (EnsemblPlants:AT1G27040.1) - c.1540G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13976614 | 530 | R>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9387009G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9387009G>A Locations: - p.Arg530Cys (EnsemblPlants:AT1G27040.1) - c.1588C>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649217 | 540 | M>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9386977C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386977C>T Locations: - p.Met540Ile (EnsemblPlants:AT1G27040.1) - c.1620G>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9386949_G_T | 550 | H>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: 1:g.9386949G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386949G>T Locations: - p.His550Asn (EnsemblPlants:AT1G27040.1) - c.1648C>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12111481 | 552 | L>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.9386942A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386942A>T Locations: - p.Leu552His (EnsemblPlants:AT1G27040.1) - c.1655T>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9386943_G_T | 552 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9386943G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386943G>T Locations: - p.Leu552Ile (EnsemblPlants:AT1G27040.1) - c.1654C>A (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649214 | 554 | W>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: 1:g.9386935C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386935C>A Locations: - p.Trp554Cys (EnsemblPlants:AT1G27040.1) - c.1662G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04649215 | 554 | W>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: 1:g.9386936C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386936C>A Locations: - p.Trp554Leu (EnsemblPlants:AT1G27040.1) - c.1661G>T (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: | |||||||
tmp_1_9386922_T_C | 559 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.9386922T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.9386922T>C Locations: - p.Lys559Glu (EnsemblPlants:AT1G27040.1) - c.1675A>G (EnsemblPlants:AT1G27040.1) Source type: large scale study Cross-references: |