Q6DBP4 · PAE8_ARATH
- ProteinPectin acetylesterase 8
- GenePAE8
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids397 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH02882286 | 13 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 4:g.10589770C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10589770C>T Locations: - p.Cys13Tyr (EnsemblPlants:AT4G19420.1) - c.38G>A (EnsemblPlants:AT4G19420.1) - p.Cys13Tyr (EnsemblPlants:AT4G19420.2) - c.38G>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10589701_T_A | 36 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 4:g.10589701T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 4:g.10589701T>A Locations: - p.Lys36Ile (EnsemblPlants:AT4G19420.1) - c.107A>T (EnsemblPlants:AT4G19420.1) - p.Lys36Ile (EnsemblPlants:AT4G19420.2) - c.107A>T (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10589552_C_T | 53 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 4:g.10589552C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10589552C>T Locations: - p.Gly53Ser (EnsemblPlants:AT4G19420.1) - c.157G>A (EnsemblPlants:AT4G19420.1) - p.Gly53Ser (EnsemblPlants:AT4G19420.2) - c.157G>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12021309 | 74 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 4:g.10589352C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: Genomic location: 4:g.10589352C>A Locations: - p.Val74Leu (EnsemblPlants:AT4G19420.1) - c.220G>T (EnsemblPlants:AT4G19420.1) - p.Val74Leu (EnsemblPlants:AT4G19420.2) - c.220G>T (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00522988 | 78 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 4:g.10589340C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10589340C>T Locations: - p.Val78Ile (EnsemblPlants:AT4G19420.1) - c.232G>A (EnsemblPlants:AT4G19420.1) - p.Val78Ile (EnsemblPlants:AT4G19420.2) - c.232G>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00522988 | 78 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.10589340C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10589340C>G Locations: - p.Val78Leu (EnsemblPlants:AT4G19420.1) - c.232G>C (EnsemblPlants:AT4G19420.1) - p.Val78Leu (EnsemblPlants:AT4G19420.2) - c.232G>C (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10588967_G_C | 145 | A>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 4:g.10588967G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588967G>C Locations: - p.Ala145Gly (EnsemblPlants:AT4G19420.1) - c.434C>G (EnsemblPlants:AT4G19420.1) - p.Ala145Gly (EnsemblPlants:AT4G19420.2) - c.434C>G (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10588742_C_T | 187 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 4:g.10588742C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588742C>T Locations: - p.Ala187Thr (EnsemblPlants:AT4G19420.1) - c.559G>A (EnsemblPlants:AT4G19420.1) - p.Ala187Thr (EnsemblPlants:AT4G19420.2) - c.559G>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10588688_G_C | 205 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: 4:g.10588688G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588688G>C Locations: - p.Leu205Val (EnsemblPlants:AT4G19420.1) - c.613C>G (EnsemblPlants:AT4G19420.1) - p.Leu205Val (EnsemblPlants:AT4G19420.2) - c.613C>G (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00522985 | 214 | Q>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.10588565T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588565T>C Locations: - p.Gln214Arg (EnsemblPlants:AT4G19420.1) - c.641A>G (EnsemblPlants:AT4G19420.1) - p.Gln214Arg (EnsemblPlants:AT4G19420.2) - c.641A>G (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10588543_T_A | 221 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: 4:g.10588543T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588543T>A Locations: - p.Glu221Asp (EnsemblPlants:AT4G19420.1) - c.663A>T (EnsemblPlants:AT4G19420.1) - p.Glu221Asp (EnsemblPlants:AT4G19420.2) - c.663A>T (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10588542_C_G | 222 | D>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 4:g.10588542C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588542C>G Locations: - p.Asp222His (EnsemblPlants:AT4G19420.1) - c.664G>C (EnsemblPlants:AT4G19420.1) - p.Asp222His (EnsemblPlants:AT4G19420.2) - c.664G>C (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10588539_C_T | 223 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: 4:g.10588539C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588539C>T Locations: - p.Val223Ile (EnsemblPlants:AT4G19420.1) - c.667G>A (EnsemblPlants:AT4G19420.1) - p.Val223Ile (EnsemblPlants:AT4G19420.2) - c.667G>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12021262 | 260 | L>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 4:g.10588246G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 4:g.10588246G>T Locations: - p.Leu260Met (EnsemblPlants:AT4G19420.1) - c.778C>A (EnsemblPlants:AT4G19420.1) - p.Leu260Met (EnsemblPlants:AT4G19420.2) - c.778C>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00522983 | 343 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.10587776A>T Codon: TCA/ACA Consequence type: missense Cytogenetic band: Genomic location: 4:g.10587776A>T Locations: - p.Ser343Thr (EnsemblPlants:AT4G19420.1) - c.1027T>A (EnsemblPlants:AT4G19420.1) - p.Ser343Thr (EnsemblPlants:AT4G19420.2) - c.1027T>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10587578_T_G | 374 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 4:g.10587578T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: Genomic location: 4:g.10587578T>G Locations: - p.Ile374Leu (EnsemblPlants:AT4G19420.1) - c.1120A>C (EnsemblPlants:AT4G19420.1) - p.Ile374Leu (EnsemblPlants:AT4G19420.2) - c.1120A>C (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: | |||||||
tmp_4_10587518_C_T | 394 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: 4:g.10587518C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 4:g.10587518C>T Locations: - p.Ala394Thr (EnsemblPlants:AT4G19420.1) - c.1180G>A (EnsemblPlants:AT4G19420.1) - p.Ala394Thr (EnsemblPlants:AT4G19420.2) - c.1180G>A (EnsemblPlants:AT4G19420.2) Source type: large scale study Cross-references: |