B3H6V0 · B3H6V0_ARATH
- ProteinGalactose oxidase/kelch repeat superfamily protein
- StatusUniProtKB unreviewed (TrEMBL)
- Amino acids362 (go to sequence)
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH01925164 | 3 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: 2:g.12719321A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719321A>G Locations: - p.Ile3Thr (EnsemblPlants:AT2G29780.2) - c.8T>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719307_A_T | 8 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: 2:g.12719307A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719307A>T Locations: - p.Ser8Thr (EnsemblPlants:AT2G29780.2) - c.22T>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719279_G_A | 17 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 2:g.12719279G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719279G>A Locations: - p.Pro17Leu (EnsemblPlants:AT2G29780.2) - c.50C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925163 | 18 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 2:g.12719275G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719275G>T Locations: - p.Asn18Lys (EnsemblPlants:AT2G29780.2) - c.54C>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626307 | 21 | P>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 2:g.12719267G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719267G>C Locations: - p.Pro21Arg (EnsemblPlants:AT2G29780.2) - c.62C>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626306 | 27 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: 2:g.12719248G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719248G>T Locations: - p.Asn27Lys (EnsemblPlants:AT2G29780.2) - c.81C>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719247_G_T | 28 | P>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 2:g.12719247G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719247G>T Locations: - p.Pro28Thr (EnsemblPlants:AT2G29780.2) - c.82C>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719231_T_C | 33 | H>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: 2:g.12719231T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719231T>C Locations: - p.His33Arg (EnsemblPlants:AT2G29780.2) - c.98A>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719178_C_A | 51 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: 2:g.12719178C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719178C>A Locations: - p.Ala51Ser (EnsemblPlants:AT2G29780.2) - c.151G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719102_C_T | 76 | R>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: 2:g.12719102C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719102C>T Locations: - p.Arg76His (EnsemblPlants:AT2G29780.2) - c.227G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00254099 | 89 | S>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.74) Somatic: No Accession: 2:g.12719063G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719063G>A Locations: - p.Ser89Leu (EnsemblPlants:AT2G29780.2) - c.266C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12719001_G_A | 110 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 2:g.12719001G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12719001G>A Locations: - p.Pro110Ser (EnsemblPlants:AT2G29780.2) - c.328C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626302 | 117 | H>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 2:g.12718979T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718979T>G Locations: - p.His117Pro (EnsemblPlants:AT2G29780.2) - c.350A>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925162 | 124 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 2:g.12718959G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718959G>A Locations: - p.Pro124Ser (EnsemblPlants:AT2G29780.2) - c.370C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718937_C_T | 131 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: 2:g.12718937C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718937C>T Locations: - p.Gly131Asp (EnsemblPlants:AT2G29780.2) - c.392G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH13471175 | 133 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 2:g.12718932G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718932G>C Locations: - p.Leu133Val (EnsemblPlants:AT2G29780.2) - c.397C>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH13471154 | 135 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 2:g.12718926G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718926G>A Locations: - p.Pro135Ser (EnsemblPlants:AT2G29780.2) - c.403C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718911_A_C | 140 | S>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 2:g.12718911A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718911A>C Locations: - p.Ser140Ala (EnsemblPlants:AT2G29780.2) - c.418T>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925160 | 141 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 2:g.12718907G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718907G>A Locations: - p.Ala141Val (EnsemblPlants:AT2G29780.2) - c.422C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626301 | 160 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 2:g.12718849G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718849G>T Locations: - p.Asn160Lys (EnsemblPlants:AT2G29780.2) - c.480C>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626300 | 167 | V>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 2:g.12718830C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718830C>A Locations: - p.Val167Phe (EnsemblPlants:AT2G29780.2) - c.499G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925158 | 168 | I>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 2:g.12718825G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718825G>C Locations: - p.Ile168Met (EnsemblPlants:AT2G29780.2) - c.504C>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626299 | 170 | C>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718821A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718821A>G Locations: - p.Cys170Arg (EnsemblPlants:AT2G29780.2) - c.508T>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925157 | 174 | T>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: 2:g.12718808G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718808G>T Locations: - p.Thr174Lys (EnsemblPlants:AT2G29780.2) - c.521C>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718751_A_G | 193 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718751A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718751A>G Locations: - p.Ile193Thr (EnsemblPlants:AT2G29780.2) - c.578T>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718728_C_T | 201 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718728C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718728C>T Locations: - p.Gly201Arg (EnsemblPlants:AT2G29780.2) - c.601G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718725_C_A | 202 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718725C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718725C>A Locations: - p.Gly202Cys (EnsemblPlants:AT2G29780.2) - c.604G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626298 | 202 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718724C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718724C>T Locations: - p.Gly202Asp (EnsemblPlants:AT2G29780.2) - c.605G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718721_C_T | 203 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: 2:g.12718721C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718721C>T Locations: - p.Cys203Tyr (EnsemblPlants:AT2G29780.2) - c.608G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00254098 | 204 | E>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 2:g.12718719C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: 2:g.12718719C>A Locations: - p.Glu204Ter (EnsemblPlants:AT2G29780.2) - c.610G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718713_G_A | 206 | R>W | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718713G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718713G>A Locations: - p.Arg206Trp (EnsemblPlants:AT2G29780.2) - c.616C>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00254097 | 208 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: 2:g.12718705G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718705G>C Locations: - p.Asp208Glu (EnsemblPlants:AT2G29780.2) - c.624C>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925156 | 212 | E>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718695C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718695C>G Locations: - p.Glu212Gln (EnsemblPlants:AT2G29780.2) - c.634G>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925155 | 215 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: 2:g.12718686C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718686C>T Locations: - p.Asp215Asn (EnsemblPlants:AT2G29780.2) - c.643G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00254096 | 220 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 2:g.12718671T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718671T>G Locations: - p.Ile220Leu (EnsemblPlants:AT2G29780.2) - c.658A>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718638_T_A | 231 | M>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: 2:g.12718638T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718638T>A Locations: - p.Met231Leu (EnsemblPlants:AT2G29780.2) - c.691A>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718627_C_G | 234 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: 2:g.12718627C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718627C>G Locations: - p.Leu234Phe (EnsemblPlants:AT2G29780.2) - c.702G>C (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718619_C_T | 237 | G>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 2:g.12718619C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718619C>T Locations: - p.Gly237Glu (EnsemblPlants:AT2G29780.2) - c.710G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718612_A_T | 239 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12718612A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718612A>T Locations: - p.Phe239Leu (EnsemblPlants:AT2G29780.2) - c.717T>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH13471153 | 243 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12718602C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718602C>T Locations: - p.Val243Met (EnsemblPlants:AT2G29780.2) - c.727G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626297 | 247 | N>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 2:g.12718590T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718590T>A Locations: - p.Asn247Tyr (EnsemblPlants:AT2G29780.2) - c.739A>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH14570144 | 271 | E>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 2:g.12718518C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: 2:g.12718518C>A Locations: - p.Glu271Ter (EnsemblPlants:AT2G29780.2) - c.811G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626295 | 272 | L>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: 2:g.12718514A>T Codon: CTT/CAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718514A>T Locations: - p.Leu272His (EnsemblPlants:AT2G29780.2) - c.815T>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626293 | 280 | W>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 2:g.12718490C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: 2:g.12718490C>T Locations: - p.Trp280Ter (EnsemblPlants:AT2G29780.2) - c.839G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718487_T_C | 281 | Y>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 2:g.12718487T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718487T>C Locations: - p.Tyr281Cys (EnsemblPlants:AT2G29780.2) - c.842A>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626292 | 285 | C>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12718476A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718476A>T Locations: - p.Cys285Ser (EnsemblPlants:AT2G29780.2) - c.853T>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718464_C_T | 289 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 2:g.12718464C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718464C>T Locations: - p.Asp289Asn (EnsemblPlants:AT2G29780.2) - c.865G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718459_C_A | 290 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 2:g.12718459C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718459C>A Locations: - p.Leu290Phe (EnsemblPlants:AT2G29780.2) - c.870G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718419_T_A | 304 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: 2:g.12718419T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718419T>A Locations: - p.Ile304Leu (EnsemblPlants:AT2G29780.2) - c.910A>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925154 | 308 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: 2:g.12718407C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718407C>T Locations: - p.Asp308Asn (EnsemblPlants:AT2G29780.2) - c.922G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718398_C_T | 311 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12718398C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718398C>T Locations: - p.Val311Ile (EnsemblPlants:AT2G29780.2) - c.931G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925152 | 314 | W>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718387C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718387C>A Locations: - p.Trp314Cys (EnsemblPlants:AT2G29780.2) - c.942G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925153 | 314 | W>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12718388C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718388C>A Locations: - p.Trp314Leu (EnsemblPlants:AT2G29780.2) - c.941G>T (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
tmp_2_12718374_C_T | 319 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: 2:g.12718374C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718374C>T Locations: - p.Asp319Asn (EnsemblPlants:AT2G29780.2) - c.955G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH00254092 | 332 | T>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 2:g.12718226G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718226G>C Locations: - p.Thr332Arg (EnsemblPlants:AT2G29780.2) - c.995C>G (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH01925149 | 340 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12718203C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718203C>T Locations: - p.Asp340Asn (EnsemblPlants:AT2G29780.2) - c.1018G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH05626288 | 353 | Y>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 2:g.12718162G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: Genomic location: 2:g.12718162G>T Locations: - p.Tyr353Ter (EnsemblPlants:AT2G29780.2) - c.1059C>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: | |||||||
ENSVATH13471152 | 358 | R>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 2:g.12718148C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12718148C>T Locations: - p.Arg358His (EnsemblPlants:AT2G29780.2) - c.1073G>A (EnsemblPlants:AT2G29780.2) Source type: large scale study Cross-references: |