Q9SA87 · BBE10_ARATH
- ProteinBerberine bridge enzyme-like 10
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids527 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH04678389 | 6 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.10898212G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898212G>A Locations: - p.Val6Met (EnsemblPlants:AT1G30720.1) - c.16G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678391 | 9 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 1:g.10898223G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898223G>C Locations: - p.Leu9Phe (EnsemblPlants:AT1G30720.1) - c.27G>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898224_C_G | 10 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: 1:g.10898224C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898224C>G Locations: - p.Leu10Val (EnsemblPlants:AT1G30720.1) - c.28C>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12410652 | 27 | I>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: 1:g.10898276T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898276T>A Locations: - p.Ile27Lys (EnsemblPlants:AT1G30720.1) - c.80T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898284_C_A | 30 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 1:g.10898284C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898284C>A Locations: - p.Leu30Ile (EnsemblPlants:AT1G30720.1) - c.88C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898314_C_T | 40 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: 1:g.10898314C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898314C>T Locations: - p.Pro40Ser (EnsemblPlants:AT1G30720.1) - c.118C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898343_C_G | 49 | Y>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 1:g.10898343C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: Genomic location: 1:g.10898343C>G Locations: - p.Tyr49Ter (EnsemblPlants:AT1G30720.1) - c.147C>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678393 | 57 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.10898366C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898366C>T Locations: - p.Thr57Ile (EnsemblPlants:AT1G30720.1) - c.170C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678395 | 59 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: 1:g.10898371G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898371G>A Locations: - p.Val59Ile (EnsemblPlants:AT1G30720.1) - c.175G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14013470 | 61 | R>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898377C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898377C>T Locations: - p.Arg61Cys (EnsemblPlants:AT1G30720.1) - c.181C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678396 | 62 | S>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.10898380A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898380A>C Locations: - p.Ser62Arg (EnsemblPlants:AT1G30720.1) - c.184A>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678398 | 72 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.10898410C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898410C>T Locations: - p.Pro72Ser (EnsemblPlants:AT1G30720.1) - c.214C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898440_G_A | 82 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.10898440G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898440G>A Locations: - p.Ala82Thr (EnsemblPlants:AT1G30720.1) - c.244G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678401 | 84 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: 1:g.10898446G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898446G>A Locations: - p.Ala84Thr (EnsemblPlants:AT1G30720.1) - c.250G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678403 | 93 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: 1:g.10898473G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898473G>A Locations: - p.Val93Ile (EnsemblPlants:AT1G30720.1) - c.277G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01131422 | 97 | R>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898486G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898486G>A Locations: - p.Arg97His (EnsemblPlants:AT1G30720.1) - c.290G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12410654 | 130 | G>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.10898585G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898585G>C Locations: - p.Gly130Ala (EnsemblPlants:AT1G30720.1) - c.389G>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678405 | 132 | K>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898591A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898591A>C Locations: - p.Lys132Thr (EnsemblPlants:AT1G30720.1) - c.395A>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898633_A_G | 146 | D>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 1:g.10898633A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898633A>G Locations: - p.Asp146Gly (EnsemblPlants:AT1G30720.1) - c.437A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678408 | 151 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 1:g.10898647C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898647C>G Locations: - p.Leu151Val (EnsemblPlants:AT1G30720.1) - c.451C>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14013472 | 167 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898697T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898697T>A Locations: - p.Phe167Leu (EnsemblPlants:AT1G30720.1) - c.501T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898705_G_A | 170 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898705G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898705G>A Locations: - p.Gly170Asp (EnsemblPlants:AT1G30720.1) - c.509G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678412 | 180 | H>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.10898736C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898736C>G Locations: - p.His180Gln (EnsemblPlants:AT1G30720.1) - c.540C>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678413 | 188 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.10898758A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898758A>G Locations: - p.Asn188Asp (EnsemblPlants:AT1G30720.1) - c.562A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898762_T_A | 189 | L>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898762T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898762T>A Locations: - p.Leu189Gln (EnsemblPlants:AT1G30720.1) - c.566T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12410835 | 193 | Y>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898773T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898773T>A Locations: - p.Tyr193Asn (EnsemblPlants:AT1G30720.1) - c.577T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00052578 | 201 | F>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.99) Somatic: No Accession: 1:g.10898797T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898797T>G Locations: - p.Phe201Val (EnsemblPlants:AT1G30720.1) - c.601T>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898807_G_T | 204 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: 1:g.10898807G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898807G>T Locations: - p.Gly204Val (EnsemblPlants:AT1G30720.1) - c.611G>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898852_T_C | 219 | M>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898852T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898852T>C Locations: - p.Met219Thr (EnsemblPlants:AT1G30720.1) - c.656T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898911_C_G | 239 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 1:g.10898911C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898911C>G Locations: - p.Leu239Val (EnsemblPlants:AT1G30720.1) - c.715C>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898933_T_C | 246 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.10898933T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898933T>C Locations: - p.Val246Ala (EnsemblPlants:AT1G30720.1) - c.737T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678418 | 248 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898938G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898938G>A Locations: - p.Val248Met (EnsemblPlants:AT1G30720.1) - c.742G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00052579 | 251 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 1:g.10898949A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898949A>T Locations: - p.Lys251Asn (EnsemblPlants:AT1G30720.1) - c.753A>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898948_A_G | 251 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 1:g.10898948A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898948A>G Locations: - p.Lys251Arg (EnsemblPlants:AT1G30720.1) - c.752A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898964_A_T | 256 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: 1:g.10898964A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898964A>T Locations: - p.Lys256Asn (EnsemblPlants:AT1G30720.1) - c.768A>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678421 | 260 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.10898974A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898974A>G Locations: - p.Thr260Ala (EnsemblPlants:AT1G30720.1) - c.778A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898984_A_G | 263 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898984A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898984A>G Locations: - p.Glu263Gly (EnsemblPlants:AT1G30720.1) - c.788A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678422 | 265 | A>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898990C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898990C>A Locations: - p.Ala265Asp (EnsemblPlants:AT1G30720.1) - c.794C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01131423 | 266 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.10898992G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898992G>A Locations: - p.Val266Ile (EnsemblPlants:AT1G30720.1) - c.796G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10898999_T_G | 268 | L>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10898999T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10898999T>G Locations: - p.Leu268Arg (EnsemblPlants:AT1G30720.1) - c.803T>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899013_C_A | 273 | Q>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899013C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899013C>A Locations: - p.Gln273Lys (EnsemblPlants:AT1G30720.1) - c.817C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899027_T_A | 277 | H>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 1:g.10899027T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899027T>A Locations: - p.His277Gln (EnsemblPlants:AT1G30720.1) - c.831T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899025_C_T | 277 | H>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 1:g.10899025C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899025C>T Locations: - p.His277Tyr (EnsemblPlants:AT1G30720.1) - c.829C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899032_C_T | 279 | T>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 1:g.10899032C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899032C>T Locations: - p.Thr279Met (EnsemblPlants:AT1G30720.1) - c.836C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899049_G_A | 285 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: 1:g.10899049G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899049G>A Locations: - p.Val285Met (EnsemblPlants:AT1G30720.1) - c.853G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678424 | 300 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.10899096T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899096T>A Locations: - p.Asn300Lys (EnsemblPlants:AT1G30720.1) - c.900T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899097_A_C | 301 | T>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899097A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899097A>C Locations: - p.Thr301Pro (EnsemblPlants:AT1G30720.1) - c.901A>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678425 | 303 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 1:g.10899103T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899103T>A Locations: - p.Leu303Ile (EnsemblPlants:AT1G30720.1) - c.907T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899104_T_C | 303 | L>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: 1:g.10899104T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899104T>C Locations: - p.Leu303Ser (EnsemblPlants:AT1G30720.1) - c.908T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899107_C_A | 304 | A>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899107C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899107C>A Locations: - p.Ala304Glu (EnsemblPlants:AT1G30720.1) - c.911C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899109_A_T | 305 | T>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.10899109A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899109A>T Locations: - p.Thr305Ser (EnsemblPlants:AT1G30720.1) - c.913A>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678428 | 307 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 1:g.10899116T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899116T>C Locations: - p.Ile307Thr (EnsemblPlants:AT1G30720.1) - c.920T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899130_G_A | 312 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899130G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899130G>A Locations: - p.Gly312Ser (EnsemblPlants:AT1G30720.1) - c.934G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899163_C_T | 323 | R>W | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899163C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899163C>T Locations: - p.Arg323Trp (EnsemblPlants:AT1G30720.1) - c.967C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899182_A_G | 329 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.10899182A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899182A>G Locations: - p.Lys329Arg (EnsemblPlants:AT1G30720.1) - c.986A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899197_A_C | 334 | D>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899197A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899197A>C Locations: - p.Asp334Ala (EnsemblPlants:AT1G30720.1) - c.1001A>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14013506 | 355 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.10899260C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899260C>T Locations: - p.Pro355Leu (EnsemblPlants:AT1G30720.1) - c.1064C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678430 | 362 | P>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 1:g.10899280C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899280C>A Locations: - p.Pro362Thr (EnsemblPlants:AT1G30720.1) - c.1084C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678431 | 363 | L>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: 1:g.10899284T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899284T>C Locations: - p.Leu363Pro (EnsemblPlants:AT1G30720.1) - c.1088T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678432 | 372 | R>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.10899311G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899311G>A Locations: - p.Arg372Gln (EnsemblPlants:AT1G30720.1) - c.1115G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678433 | 373 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899315A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899315A>C Locations: - p.Lys373Asn (EnsemblPlants:AT1G30720.1) - c.1119A>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00052580 | 384 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: 1:g.10899346A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899346A>G Locations: - p.Thr384Ala (EnsemblPlants:AT1G30720.1) - c.1150A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899356_G_C | 387 | G>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 1:g.10899356G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899356G>C Locations: - p.Gly387Ala (EnsemblPlants:AT1G30720.1) - c.1160G>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12410841 | 398 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 1:g.10899389A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899389A>T Locations: - p.Lys398Ile (EnsemblPlants:AT1G30720.1) - c.1193A>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678435 | 401 | M>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.10899398T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899398T>C Locations: - p.Met401Thr (EnsemblPlants:AT1G30720.1) - c.1202T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899412_T_C | 406 | Y>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.10899412T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899412T>C Locations: - p.Tyr406His (EnsemblPlants:AT1G30720.1) - c.1216T>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH12410842 | 414 | P>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 1:g.10899437C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899437C>A Locations: - p.Pro414Gln (EnsemblPlants:AT1G30720.1) - c.1241C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899446_G_C | 417 | R>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: 1:g.10899446G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899446G>C Locations: - p.Arg417Thr (EnsemblPlants:AT1G30720.1) - c.1250G>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899470_G_A | 425 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899470G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899470G>A Locations: - p.Gly425Asp (EnsemblPlants:AT1G30720.1) - c.1274G>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH01131426 | 445 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 1:g.10899530A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899530A>G Locations: - p.Lys445Arg (EnsemblPlants:AT1G30720.1) - c.1334A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00052582 | 453 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 1:g.10899555A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899555A>T Locations: - p.Glu453Asp (EnsemblPlants:AT1G30720.1) - c.1359A>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899559_T_A | 455 | Y>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899559T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899559T>A Locations: - p.Tyr455Asn (EnsemblPlants:AT1G30720.1) - c.1363T>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678438 | 468 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 1:g.10899600G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899600G>T Locations: - p.Glu468Asp (EnsemblPlants:AT1G30720.1) - c.1404G>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678440 | 485 | T>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 1:g.10899650C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899650C>T Locations: - p.Thr485Met (EnsemblPlants:AT1G30720.1) - c.1454C>T (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
tmp_1_10899667_A_C | 491 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 1:g.10899667A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899667A>C Locations: - p.Ile491Leu (EnsemblPlants:AT1G30720.1) - c.1471A>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678441 | 494 | A>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: 1:g.10899677C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899677C>A Locations: - p.Ala494Asp (EnsemblPlants:AT1G30720.1) - c.1481C>A (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14013509 | 499 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 1:g.10899693G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899693G>C Locations: - p.Glu499Asp (EnsemblPlants:AT1G30720.1) - c.1497G>C (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: | |||||||
ENSVATH04678442 | 506 | D>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 1:g.10899713A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: 1:g.10899713A>G Locations: - p.Asp506Gly (EnsemblPlants:AT1G30720.1) - c.1517A>G (EnsemblPlants:AT1G30720.1) Source type: large scale study Cross-references: |