Q9SU35 · ERLL1_ARATH
- ProteinpEARLI1-like lipid transfer protein 1
- GeneAZI1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids161 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH06632935 | 24 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 4:g.7401787C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401787C>T Locations: - p.Val24Ile (EnsemblPlants:AT4G12470.1) - c.70G>A (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06632933 | 35 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: 4:g.7401752T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401752T>G Locations: - p.Lys35Asn (EnsemblPlants:AT4G12470.1) - c.105A>C (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06632932 | 54 | R>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: 4:g.7401696C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401696C>T Locations: - p.Arg54His (EnsemblPlants:AT4G12470.1) - c.161G>A (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
tmp_4_7401666_G_T | 64 | P>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 4:g.7401666G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401666G>T Locations: - p.Pro64Gln (EnsemblPlants:AT4G12470.1) - c.191C>A (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06632930 | 69 | R>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.7401652G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401652G>T Locations: - p.Arg69Ser (EnsemblPlants:AT4G12470.1) - c.205C>A (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
tmp_4_7401648_G_C | 70 | T>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.74) Somatic: No Accession: 4:g.7401648G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401648G>C Locations: - p.Thr70Ser (EnsemblPlants:AT4G12470.1) - c.209C>G (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14154724 | 74 | S>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 4:g.7401637A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401637A>G Locations: - p.Ser74Pro (EnsemblPlants:AT4G12470.1) - c.220T>C (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
tmp_4_7401579_C_G | 93 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 4:g.7401579C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401579C>G Locations: - p.Ser93Thr (EnsemblPlants:AT4G12470.1) - c.278G>C (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
tmp_4_7401505_C_G | 118 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.7401505C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401505C>G Locations: - p.Val118Leu (EnsemblPlants:AT4G12470.1) - c.352G>C (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: | |||||||
tmp_4_7401463_C_T | 132 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 4:g.7401463C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 4:g.7401463C>T Locations: - p.Val132Ile (EnsemblPlants:AT4G12470.1) - c.394G>A (EnsemblPlants:AT4G12470.1) Source type: large scale study Cross-references: |