Q38866 · EXPA2_ARATH
- ProteinExpansin-A2
- GeneEXPA2
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids255 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
tmp_5_1568759_T_G | 3 | L>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: 5:g.1568759T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1568759T>G Locations: - p.Leu3Arg (EnsemblPlants:AT5G05290.1) - c.8T>G (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00607492 | 17 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: 5:g.1568800C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1568800C>A Locations: - p.Leu17Ile (EnsemblPlants:AT5G05290.1) - c.49C>A (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
tmp_5_1568805_C_A | 18 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: 5:g.1568805C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: 5:g.1568805C>A Locations: - p.Asn18Lys (EnsemblPlants:AT5G05290.1) - c.54C>A (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03025809 | 21 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: 5:g.1568814G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1568814G>C Locations: - p.Leu21Phe (EnsemblPlants:AT5G05290.1) - c.63G>C (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03025810 | 23 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: 5:g.1568819C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1568819C>T Locations: - p.Ser23Phe (EnsemblPlants:AT5G05290.1) - c.68C>T (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00607493 | 28 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: 5:g.1568835C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: 5:g.1568835C>A Locations: - p.Asp28Glu (EnsemblPlants:AT5G05290.1) - c.84C>A (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
tmp_5_1569072_A_G | 76 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: 5:g.1569072A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569072A>G Locations: - p.Asn76Asp (EnsemblPlants:AT5G05290.1) - c.226A>G (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
tmp_5_1569085_A_T | 80 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: 5:g.1569085A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569085A>T Locations: - p.Lys80Ile (EnsemblPlants:AT5G05290.1) - c.239A>T (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
tmp_5_1569198_G_A | 118 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: 5:g.1569198G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569198G>A Locations: - p.Asp118Asn (EnsemblPlants:AT5G05290.1) - c.352G>A (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
tmp_5_1569228_A_G | 128 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: 5:g.1569228A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569228A>G Locations: - p.Lys128Glu (EnsemblPlants:AT5G05290.1) - c.382A>G (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00607499 | 134 | E>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: 5:g.1569246G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569246G>C Locations: - p.Glu134Gln (EnsemblPlants:AT5G05290.1) - c.400G>C (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10585558 | 155 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: 5:g.1569407G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569407G>A Locations: - p.Val155Ile (EnsemblPlants:AT5G05290.1) - c.463G>A (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
tmp_5_1569422_G_A | 160 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: 5:g.1569422G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569422G>A Locations: - p.Gly160Ser (EnsemblPlants:AT5G05290.1) - c.478G>A (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03025823 | 168 | N>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: 5:g.1569446A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569446A>C Locations: - p.Asn168His (EnsemblPlants:AT5G05290.1) - c.502A>C (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00607504 | 192 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: 5:g.1569520G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569520G>T Locations: - p.Leu192Phe (EnsemblPlants:AT5G05290.1) - c.576G>T (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06925569 | 228 | D>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: 5:g.1569627A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569627A>C Locations: - p.Asp228Ala (EnsemblPlants:AT5G05290.1) - c.683A>C (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10585561 | 232 | R>W | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: 5:g.1569638C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569638C>T Locations: - p.Arg232Trp (EnsemblPlants:AT5G05290.1) - c.694C>T (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06925571 | 250 | F>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: 5:g.1569693T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.1569693T>G Locations: - p.Phe250Cys (EnsemblPlants:AT5G05290.1) - c.749T>G (EnsemblPlants:AT5G05290.1) Source type: large scale study Cross-references: |