Q9C8U5 · IAN2_ARATH
- ProteinImmune-associated nucleotide-binding protein 2
- GeneIAN2
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids234 (go to sequence)
- Protein existenceInferred from homology
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH04719780 | 2 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: 1:g.12304908C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304908C>A Locations: - p.Gly2Cys (EnsemblPlants:AT1G33880.1) - c.4G>T (EnsemblPlants:AT1G33880.1) - p.Gly2Cys (EnsemblPlants:AT1G33880.2) - c.4G>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063144 | 11 | D>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 1:g.12304880T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304880T>C Locations: - p.Asp11Gly (EnsemblPlants:AT1G33880.1) - c.32A>G (EnsemblPlants:AT1G33880.1) - p.Asp11Gly (EnsemblPlants:AT1G33880.2) - c.32A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719776 | 13 | K>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304875T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304875T>C Locations: - p.Lys13Glu (EnsemblPlants:AT1G33880.1) - c.37A>G (EnsemblPlants:AT1G33880.1) - p.Lys13Glu (EnsemblPlants:AT1G33880.2) - c.37A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719775 | 15 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.12304868T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304868T>A Locations: - p.Lys15Ile (EnsemblPlants:AT1G33880.1) - c.44A>T (EnsemblPlants:AT1G33880.1) - p.Lys15Ile (EnsemblPlants:AT1G33880.2) - c.44A>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063143 | 15 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: 1:g.12304867T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304867T>A Locations: - p.Lys15Asn (EnsemblPlants:AT1G33880.1) - c.45A>T (EnsemblPlants:AT1G33880.1) - p.Lys15Asn (EnsemblPlants:AT1G33880.2) - c.45A>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304863_T_A,G | 17 | T>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 1:g.12304863T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304863T>G Locations: - p.Thr17Pro (EnsemblPlants:AT1G33880.1) - c.49A>C (EnsemblPlants:AT1G33880.1) - p.Thr17Pro (EnsemblPlants:AT1G33880.2) - c.49A>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304863_T_A,G | 17 | T>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: 1:g.12304863T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304863T>A Locations: - p.Thr17Ser (EnsemblPlants:AT1G33880.1) - c.49A>T (EnsemblPlants:AT1G33880.1) - p.Thr17Ser (EnsemblPlants:AT1G33880.2) - c.49A>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719774 | 22 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 1:g.12304847G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304847G>A Locations: - p.Pro22Leu (EnsemblPlants:AT1G33880.1) - c.65C>T (EnsemblPlants:AT1G33880.1) - p.Pro22Leu (EnsemblPlants:AT1G33880.2) - c.65C>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063142 | 35 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12304809C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304809C>T Locations: - p.Gly35Arg (EnsemblPlants:AT1G33880.1) - c.103G>A (EnsemblPlants:AT1G33880.1) - p.Gly35Arg (EnsemblPlants:AT1G33880.2) - c.103G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12785190 | 42 | N>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 1:g.12304787T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304787T>G Locations: - p.Asn42Thr (EnsemblPlants:AT1G33880.1) - c.125A>C (EnsemblPlants:AT1G33880.1) - p.Asn42Thr (EnsemblPlants:AT1G33880.2) - c.125A>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH14062611 | 44 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12304782G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304782G>A Locations: - p.Leu44Phe (EnsemblPlants:AT1G33880.1) - c.130C>T (EnsemblPlants:AT1G33880.1) - p.Leu44Phe (EnsemblPlants:AT1G33880.2) - c.130C>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063141 | 50 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: 1:g.12304764C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304764C>T Locations: - p.Gly50Ser (EnsemblPlants:AT1G33880.1) - c.148G>A (EnsemblPlants:AT1G33880.1) - p.Gly50Ser (EnsemblPlants:AT1G33880.2) - c.148G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063140 | 52 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: 1:g.12304758C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304758C>T Locations: - p.Glu52Lys (EnsemblPlants:AT1G33880.1) - c.154G>A (EnsemblPlants:AT1G33880.1) - p.Glu52Lys (EnsemblPlants:AT1G33880.2) - c.154G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304752_C_A | 54 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 1:g.12304752C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304752C>A Locations: - p.Ala54Ser (EnsemblPlants:AT1G33880.1) - c.160G>T (EnsemblPlants:AT1G33880.1) - p.Ala54Ser (EnsemblPlants:AT1G33880.2) - c.160G>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063139 | 57 | H>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.12304741G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304741G>C Locations: - p.His57Gln (EnsemblPlants:AT1G33880.1) - c.171C>G (EnsemblPlants:AT1G33880.1) - p.His57Gln (EnsemblPlants:AT1G33880.2) - c.171C>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12785188 | 62 | S>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 1:g.12304727C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304727C>T Locations: - p.Ser62Asn (EnsemblPlants:AT1G33880.1) - c.185G>A (EnsemblPlants:AT1G33880.1) - p.Ser62Asn (EnsemblPlants:AT1G33880.2) - c.185G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063138 | 64 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: 1:g.12304722T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304722T>C Locations: - p.Thr64Ala (EnsemblPlants:AT1G33880.1) - c.190A>G (EnsemblPlants:AT1G33880.1) - p.Thr64Ala (EnsemblPlants:AT1G33880.2) - c.190A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063138 | 64 | T>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.12304722T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304722T>G Locations: - p.Thr64Pro (EnsemblPlants:AT1G33880.1) - c.190A>C (EnsemblPlants:AT1G33880.1) - p.Thr64Pro (EnsemblPlants:AT1G33880.2) - c.190A>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304688_T_A | 75 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12304688T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304688T>A Locations: - p.Lys75Ile (EnsemblPlants:AT1G33880.1) - c.224A>T (EnsemblPlants:AT1G33880.1) - p.Lys75Ile (EnsemblPlants:AT1G33880.2) - c.224A>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063133 | 88 | Y>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304419T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304419T>A Locations: - p.Tyr88Phe (EnsemblPlants:AT1G33880.1) - c.263A>T (EnsemblPlants:AT1G33880.1) - p.Tyr88Phe (EnsemblPlants:AT1G33880.2) - c.263A>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304402_T_C | 94 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304402T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304402T>C Locations: - p.Ile94Val (EnsemblPlants:AT1G33880.1) - c.280A>G (EnsemblPlants:AT1G33880.1) - p.Ile94Val (EnsemblPlants:AT1G33880.2) - c.280A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304384_C_T | 100 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 1:g.12304384C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304384C>T Locations: - p.Ala100Thr (EnsemblPlants:AT1G33880.1) - c.298G>A (EnsemblPlants:AT1G33880.1) - p.Ala100Thr (EnsemblPlants:AT1G33880.2) - c.298G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304381_C_G | 101 | E>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.12304381C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304381C>G Locations: - p.Glu101Gln (EnsemblPlants:AT1G33880.1) - c.301G>C (EnsemblPlants:AT1G33880.1) - p.Glu101Gln (EnsemblPlants:AT1G33880.2) - c.301G>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12785022 | 105 | H>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 1:g.12304369G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304369G>C Locations: - p.His105Asp (EnsemblPlants:AT1G33880.1) - c.313C>G (EnsemblPlants:AT1G33880.1) - p.His105Asp (EnsemblPlants:AT1G33880.2) - c.313C>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304366_C_G | 106 | A>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12304366C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304366C>G Locations: - p.Ala106Pro (EnsemblPlants:AT1G33880.1) - c.316G>C (EnsemblPlants:AT1G33880.1) - p.Ala106Pro (EnsemblPlants:AT1G33880.2) - c.316G>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12785021 | 107 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.12304363C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304363C>T Locations: - p.Val107Met (EnsemblPlants:AT1G33880.1) - c.319G>A (EnsemblPlants:AT1G33880.1) - p.Val107Met (EnsemblPlants:AT1G33880.2) - c.319G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12785020 | 118 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.12304330T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304330T>C Locations: - p.Thr118Ala (EnsemblPlants:AT1G33880.1) - c.352A>G (EnsemblPlants:AT1G33880.1) - p.Thr118Ala (EnsemblPlants:AT1G33880.2) - c.352A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719768 | 125 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: 1:g.12304309G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304309G>T Locations: - p.Leu125Ile (EnsemblPlants:AT1G33880.1) - c.373C>A (EnsemblPlants:AT1G33880.1) - p.Leu125Ile (EnsemblPlants:AT1G33880.2) - c.373C>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01170349 | 149 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.12304235C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304235C>A Locations: - p.Lys149Asn (EnsemblPlants:AT1G33880.1) - c.447G>T (EnsemblPlants:AT1G33880.1) - p.Lys149Asn (EnsemblPlants:AT1G33880.2) - c.447G>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063131 | 155 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304217G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304217G>C Locations: - p.Phe155Leu (EnsemblPlants:AT1G33880.1) - c.465C>G (EnsemblPlants:AT1G33880.1) - p.Phe155Leu (EnsemblPlants:AT1G33880.2) - c.465C>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH14062608 | 160 | P>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: 1:g.12304204G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304204G>C Locations: - p.Pro160Ala (EnsemblPlants:AT1G33880.1) - c.478C>G (EnsemblPlants:AT1G33880.1) - p.Pro160Ala (EnsemblPlants:AT1G33880.2) - c.478C>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063130 | 160 | P>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: 1:g.12304203G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304203G>T Locations: - p.Pro160His (EnsemblPlants:AT1G33880.1) - c.479C>A (EnsemblPlants:AT1G33880.1) - p.Pro160His (EnsemblPlants:AT1G33880.2) - c.479C>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063130 | 160 | P>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: 1:g.12304203G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304203G>C Locations: - p.Pro160Arg (EnsemblPlants:AT1G33880.1) - c.479C>G (EnsemblPlants:AT1G33880.1) - p.Pro160Arg (EnsemblPlants:AT1G33880.2) - c.479C>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12785018 | 164 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12304191G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304191G>A Locations: - p.Pro164Leu (EnsemblPlants:AT1G33880.1) - c.491C>T (EnsemblPlants:AT1G33880.1) - p.Pro164Leu (EnsemblPlants:AT1G33880.2) - c.491C>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00063129 | 166 | F>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304185A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304185A>T Locations: - p.Phe166Tyr (EnsemblPlants:AT1G33880.1) - c.497T>A (EnsemblPlants:AT1G33880.1) - p.Phe166Tyr (EnsemblPlants:AT1G33880.2) - c.497T>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304061_C_T | 169 | R>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: 1:g.12304061C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304061C>T Locations: - p.Arg169Lys (EnsemblPlants:AT1G33880.1) - c.506G>A (EnsemblPlants:AT1G33880.1) - p.Arg169Lys (EnsemblPlants:AT1G33880.2) - c.506G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719757 | 176 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12304041C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304041C>A Locations: - p.Gly176Cys (EnsemblPlants:AT1G33880.1) - c.526G>T (EnsemblPlants:AT1G33880.1) - p.Gly176Cys (EnsemblPlants:AT1G33880.2) - c.526G>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719756 | 184 | M>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304016A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304016A>T Locations: - p.Met184Lys (EnsemblPlants:AT1G33880.1) - c.551T>A (EnsemblPlants:AT1G33880.1) - p.Met184Lys (EnsemblPlants:AT1G33880.2) - c.551T>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12304009_A_T | 186 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12304009A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12304009A>T Locations: - p.Asn186Lys (EnsemblPlants:AT1G33880.1) - c.558T>A (EnsemblPlants:AT1G33880.1) - p.Asn186Lys (EnsemblPlants:AT1G33880.2) - c.558T>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303984_C_G | 195 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: 1:g.12303984C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303984C>G Locations: - p.Val195Leu (EnsemblPlants:AT1G33880.1) - c.583G>C (EnsemblPlants:AT1G33880.1) - p.Val195Leu (EnsemblPlants:AT1G33880.2) - c.583G>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303966_G_A | 201 | H>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: 1:g.12303966G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303966G>A Locations: - p.His201Tyr (EnsemblPlants:AT1G33880.1) - c.601C>T (EnsemblPlants:AT1G33880.1) - p.His201Tyr (EnsemblPlants:AT1G33880.2) - c.601C>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719753 | 203 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.12303960C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303960C>T Locations: - p.Ala203Thr (EnsemblPlants:AT1G33880.1) - c.607G>A (EnsemblPlants:AT1G33880.1) - p.Ala203Thr (EnsemblPlants:AT1G33880.2) - c.607G>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719752 | 203 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.12303959G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303959G>A Locations: - p.Ala203Val (EnsemblPlants:AT1G33880.1) - c.608C>T (EnsemblPlants:AT1G33880.1) - p.Ala203Val (EnsemblPlants:AT1G33880.2) - c.608C>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303934_T_A | 211 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.12303934T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303934T>A Locations: - p.Glu211Asp (EnsemblPlants:AT1G33880.1) - c.633A>T (EnsemblPlants:AT1G33880.1) - p.Glu211Asp (EnsemblPlants:AT1G33880.2) - c.633A>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719751 | 211 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.12303935T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303935T>C Locations: - p.Glu211Gly (EnsemblPlants:AT1G33880.1) - c.632A>G (EnsemblPlants:AT1G33880.1) - p.Glu211Gly (EnsemblPlants:AT1G33880.2) - c.632A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01170338 | 212 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.12303931T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303931T>G Locations: - p.Lys212Asn (EnsemblPlants:AT1G33880.1) - c.636A>C (EnsemblPlants:AT1G33880.1) - p.Lys212Asn (EnsemblPlants:AT1G33880.2) - c.636A>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303932_T_C | 212 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: 1:g.12303932T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303932T>C Locations: - p.Lys212Arg (EnsemblPlants:AT1G33880.1) - c.635A>G (EnsemblPlants:AT1G33880.1) - p.Lys212Arg (EnsemblPlants:AT1G33880.2) - c.635A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303923_G_T | 215 | T>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12303923G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303923G>T Locations: - p.Thr215Asn (EnsemblPlants:AT1G33880.1) - c.644C>A (EnsemblPlants:AT1G33880.1) - p.Thr215Asn (EnsemblPlants:AT1G33880.2) - c.644C>A (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303918_C_A | 217 | D>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.12303918C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303918C>A Locations: - p.Asp217Tyr (EnsemblPlants:AT1G33880.1) - c.649G>T (EnsemblPlants:AT1G33880.1) - p.Asp217Tyr (EnsemblPlants:AT1G33880.2) - c.649G>T (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH12784914 | 220 | R>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: 1:g.12303909G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303909G>C Locations: - p.Arg220Gly (EnsemblPlants:AT1G33880.1) - c.658C>G (EnsemblPlants:AT1G33880.1) - p.Arg220Gly (EnsemblPlants:AT1G33880.2) - c.658C>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH04719750 | 221 | N>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 1:g.12303906T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303906T>G Locations: - p.Asn221His (EnsemblPlants:AT1G33880.1) - c.661A>C (EnsemblPlants:AT1G33880.1) - p.Asn221His (EnsemblPlants:AT1G33880.2) - c.661A>C (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01170337 | 226 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: 1:g.12303891T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303891T>C Locations: - p.Thr226Ala (EnsemblPlants:AT1G33880.1) - c.676A>G (EnsemblPlants:AT1G33880.1) - p.Thr226Ala (EnsemblPlants:AT1G33880.2) - c.676A>G (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: | |||||||
tmp_1_12303888_ATG_TTG,A | 227 | F>I | 1000Genomes | ||||
Consequence: missense Somatic: No Accession: 1:g.12303888delAinsT Codon: ACATTT/ACAATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.12303888delAinsT Locations: - p.Phe227Ile (EnsemblPlants:AT1G33880.1) - c.679delTinsA (EnsemblPlants:AT1G33880.1) - p.Phe227Ile (EnsemblPlants:AT1G33880.2) - c.679delTinsA (EnsemblPlants:AT1G33880.2) Source type: large scale study Cross-references: |