Q9XIQ7 · FBT7_ARATH
- ProteinProbable folate-biopterin transporter 7
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids442 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH13726576 | 2 | S>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.24109755A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109755A>G Locations: - p.Ser2Gly (EnsemblPlants:AT1G64890.1) - c.4A>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00121673 | 5 | S>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: 1:g.24109766C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109766C>G Locations: - p.Ser5Arg (EnsemblPlants:AT1G64890.1) - c.15C>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01465245 | 11 | E>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: 1:g.24109783A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109783A>C Locations: - p.Glu11Ala (EnsemblPlants:AT1G64890.1) - c.32A>C (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062331 | 14 | H>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: 1:g.24109792A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109792A>G Locations: - p.His14Arg (EnsemblPlants:AT1G64890.1) - c.41A>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726577 | 15 | R>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 1:g.24109794C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109794C>T Locations: - p.Arg15Cys (EnsemblPlants:AT1G64890.1) - c.43C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00121675 | 39 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.24109866G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109866G>C Locations: - p.Gly39Arg (EnsemblPlants:AT1G64890.1) - c.115G>C (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726580 | 57 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 1:g.24109920C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109920C>T Locations: - p.Leu57Phe (EnsemblPlants:AT1G64890.1) - c.169C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24109954_C_T | 68 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.24109954C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24109954C>T Locations: - p.Ala68Val (EnsemblPlants:AT1G64890.1) - c.203C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00121680 | 92 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.24110025G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110025G>A Locations: - p.Val92Ile (EnsemblPlants:AT1G64890.1) - c.274G>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062337 | 116 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: 1:g.24110183C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110183C>T Locations: - p.Ala116Val (EnsemblPlants:AT1G64890.1) - c.347C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110275_A_G | 147 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: 1:g.24110275A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110275A>G Locations: - p.Thr147Ala (EnsemblPlants:AT1G64890.1) - c.439A>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062340 | 150 | T>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: 1:g.24110285C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110285C>T Locations: - p.Thr150Met (EnsemblPlants:AT1G64890.1) - c.449C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726582 | 152 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: 1:g.24110291C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110291C>T Locations: - p.Ser152Phe (EnsemblPlants:AT1G64890.1) - c.455C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110302_C_T | 156 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.24110302C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110302C>T Locations: - p.Pro156Ser (EnsemblPlants:AT1G64890.1) - c.466C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14413160 | 171 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.24110348A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110348A>G Locations: - p.Asn171Ser (EnsemblPlants:AT1G64890.1) - c.512A>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726583 | 185 | S>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: 1:g.24110389T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110389T>G Locations: - p.Ser185Ala (EnsemblPlants:AT1G64890.1) - c.553T>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110447_T_C | 204 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.77) Somatic: No Accession: 1:g.24110447T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110447T>C Locations: - p.Ile204Thr (EnsemblPlants:AT1G64890.1) - c.611T>C (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14413161 | 208 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.24110459C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110459C>T Locations: - p.Ser208Phe (EnsemblPlants:AT1G64890.1) - c.623C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110488_G_A | 218 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 1:g.24110488G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110488G>A Locations: - p.Ala218Thr (EnsemblPlants:AT1G64890.1) - c.652G>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110534_G_A | 233 | R>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: 1:g.24110534G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110534G>A Locations: - p.Arg233Lys (EnsemblPlants:AT1G64890.1) - c.698G>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110537_A_C | 234 | K>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: 1:g.24110537A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110537A>C Locations: - p.Lys234Thr (EnsemblPlants:AT1G64890.1) - c.701A>C (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110561_C_T | 242 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: 1:g.24110561C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110561C>T Locations: - p.Ala242Val (EnsemblPlants:AT1G64890.1) - c.725C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110633_T_G | 266 | L>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.24110633T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110633T>G Locations: - p.Leu266Arg (EnsemblPlants:AT1G64890.1) - c.797T>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062343 | 272 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.24110650C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110650C>T Locations: - p.Leu272Phe (EnsemblPlants:AT1G64890.1) - c.814C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00121685 | 273 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: 1:g.24110653T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110653T>G Locations: - p.Leu273Val (EnsemblPlants:AT1G64890.1) - c.817T>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726585 | 275 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.24110659A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110659A>G Locations: - p.Ile275Val (EnsemblPlants:AT1G64890.1) - c.823A>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062344 | 286 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 1:g.24110692C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110692C>A Locations: - p.Leu286Ile (EnsemblPlants:AT1G64890.1) - c.856C>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110705_C_T | 290 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.9) Somatic: No Accession: 1:g.24110705C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110705C>T Locations: - p.Ala290Val (EnsemblPlants:AT1G64890.1) - c.869C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062345 | 293 | R>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.24110713C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110713C>T Locations: - p.Arg293Cys (EnsemblPlants:AT1G64890.1) - c.877C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00121687 | 297 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.24110725G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110725G>T Locations: - p.Ala297Ser (EnsemblPlants:AT1G64890.1) - c.889G>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01465257 | 304 | L>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.24110746C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110746C>A Locations: - p.Leu304Met (EnsemblPlants:AT1G64890.1) - c.910C>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110750_C_T | 305 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: 1:g.24110750C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110750C>T Locations: - p.Thr305Ile (EnsemblPlants:AT1G64890.1) - c.914C>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01465259 | 306 | A>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.24110753C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110753C>A Locations: - p.Ala306Asp (EnsemblPlants:AT1G64890.1) - c.917C>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01465258 | 306 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: 1:g.24110752G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110752G>A Locations: - p.Ala306Thr (EnsemblPlants:AT1G64890.1) - c.916G>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24110782_A_C | 316 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.24110782A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110782A>C Locations: - p.Ile316Leu (EnsemblPlants:AT1G64890.1) - c.946A>C (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062348 | 338 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: 1:g.24110848C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110848C>A Locations: - p.Leu338Ile (EnsemblPlants:AT1G64890.1) - c.1012C>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726586 | 350 | F>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.24110884T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24110884T>G Locations: - p.Phe350Val (EnsemblPlants:AT1G64890.1) - c.1048T>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13726588 | 392 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.24111010G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24111010G>A Locations: - p.Val392Ile (EnsemblPlants:AT1G64890.1) - c.1174G>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24111080_C_G | 415 | A>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: 1:g.24111080C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24111080C>G Locations: - p.Ala415Gly (EnsemblPlants:AT1G64890.1) - c.1244C>G (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00121694 | 416 | C>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: 1:g.24111083G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.24111083G>T Locations: - p.Cys416Phe (EnsemblPlants:AT1G64890.1) - c.1247G>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01465262 | 436 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: 1:g.24111142G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24111142G>A Locations: - p.Glu436Lys (EnsemblPlants:AT1G64890.1) - c.1306G>A (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
tmp_1_24111147_G_T | 437 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 1:g.24111147G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.24111147G>T Locations: - p.Lys437Asn (EnsemblPlants:AT1G64890.1) - c.1311G>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05062351 | 442 | E>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: 1:g.24111161A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.24111161A>T Locations: - p.Glu442Val (EnsemblPlants:AT1G64890.1) - c.1325A>T (EnsemblPlants:AT1G64890.1) Source type: large scale study Cross-references: |