Q9M0F9 · PFKA1_ARATH
- ProteinATP-dependent 6-phosphofructokinase 1
- GenePFK1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids473 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH14310003 | 43 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: 4:g.14405779G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: 4:g.14405779G>C Locations: - p.Asp43Glu (EnsemblPlants:AT4G29220.1) - c.129C>G (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12295501 | 55 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: 4:g.14405644C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 4:g.14405644C>T Locations: - p.Val55Ile (EnsemblPlants:AT4G29220.1) - c.163G>A (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00543947 | 75 | T>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 4:g.14405498G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: 4:g.14405498G>A Locations: - p.Thr75Met (EnsemblPlants:AT4G29220.1) - c.224C>T (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_14405068_T_A | 165 | R>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 4:g.14405068T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: 4:g.14405068T>A Locations: - p.Arg165Ter (EnsemblPlants:AT4G29220.1) - c.493A>T (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_14405061_C_T | 167 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 4:g.14405061C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.14405061C>T Locations: - p.Gly167Asp (EnsemblPlants:AT4G29220.1) - c.500G>A (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06796688 | 176 | S>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 4:g.14405033A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: Genomic location: 4:g.14405033A>T Locations: - p.Ser176Arg (EnsemblPlants:AT4G29220.1) - c.528T>A (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_14404999_T_C | 188 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 4:g.14404999T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404999T>C Locations: - p.Ile188Val (EnsemblPlants:AT4G29220.1) - c.562A>G (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14309999 | 204 | I>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 4:g.14404887A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404887A>T Locations: - p.Ile204Asn (EnsemblPlants:AT4G29220.1) - c.611T>A (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06796679 | 297 | S>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.14404420A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404420A>G Locations: - p.Ser297Pro (EnsemblPlants:AT4G29220.1) - c.889T>C (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06796678 | 305 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.14404394A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404394A>T Locations: - p.Asp305Glu (EnsemblPlants:AT4G29220.1) - c.915T>A (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12295460 | 350 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 4:g.14404261C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404261C>A Locations: - p.Gly350Cys (EnsemblPlants:AT4G29220.1) - c.1048G>T (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12295459 | 350 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 4:g.14404260C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404260C>A Locations: - p.Gly350Val (EnsemblPlants:AT4G29220.1) - c.1049G>T (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
tmp_4_14404128_T_C | 364 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: 4:g.14404128T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404128T>C Locations: - p.Lys364Glu (EnsemblPlants:AT4G29220.1) - c.1090A>G (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06796668 | 368 | T>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: 4:g.14404115G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: 4:g.14404115G>T Locations: - p.Thr368Asn (EnsemblPlants:AT4G29220.1) - c.1103C>A (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14309997 | 402 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 4:g.14403930C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: 4:g.14403930C>A Locations: - p.Val402Leu (EnsemblPlants:AT4G29220.1) - c.1204G>T (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14309996 | 424 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: 4:g.14403863T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: 4:g.14403863T>C Locations: - p.Asn424Ser (EnsemblPlants:AT4G29220.1) - c.1271A>G (EnsemblPlants:AT4G29220.1) Source type: large scale study Cross-references: |