F4KE63 · SYVM2_ARATH
- ProteinValine--tRNA ligase, chloroplastic/mitochondrial 2
- GeneEMB2247
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids974 (go to sequence)
- Protein existenceInferred from homology
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH00625833 | 24 | Q>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: 5:g.5485423A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485423A>G Locations: - p.Gln24Arg (EnsemblPlants:AT5G16715.1) - c.71A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064437 | 32 | R>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: 5:g.5485447G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485447G>A Locations: - p.Arg32His (EnsemblPlants:AT5G16715.1) - c.95G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064438 | 33 | R>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: 5:g.5485450G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485450G>C Locations: - p.Arg33Pro (EnsemblPlants:AT5G16715.1) - c.98G>C (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064439 | 44 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: 5:g.5485482A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485482A>G Locations: - p.Asn44Asp (EnsemblPlants:AT5G16715.1) - c.130A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064441 | 46 | I>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: 5:g.5485489T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485489T>G Locations: - p.Ile46Ser (EnsemblPlants:AT5G16715.1) - c.137T>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064443 | 49 | Q>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: 5:g.5485498A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485498A>T Locations: - p.Gln49Leu (EnsemblPlants:AT5G16715.1) - c.146A>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064451 | 63 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 5:g.5485653G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485653G>A Locations: - p.Val63Ile (EnsemblPlants:AT5G16715.1) - c.187G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064452 | 65 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 5:g.5485659A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485659A>G Locations: - p.Thr65Ala (EnsemblPlants:AT5G16715.1) - c.193A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10790084 | 71 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 5:g.5485678A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5485678A>G Locations: - p.Lys71Arg (EnsemblPlants:AT5G16715.1) - c.212A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03064496 | 368 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 5:g.5488989C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5488989C>T Locations: - p.Leu368Phe (EnsemblPlants:AT5G16715.1) - c.1102C>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00625851 | 394 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: 5:g.5489164T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489164T>C Locations: - p.Ile394Thr (EnsemblPlants:AT5G16715.1) - c.1181T>C (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10790242 | 395 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 5:g.5489167G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489167G>A Locations: - p.Gly395Asp (EnsemblPlants:AT5G16715.1) - c.1184G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00625853 | 434 | E>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 5:g.5489366A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489366A>C Locations: - p.Glu434Ala (EnsemblPlants:AT5G16715.1) - c.1301A>C (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06977964 | 440 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 5:g.5489384T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489384T>C Locations: - p.Val440Ala (EnsemblPlants:AT5G16715.1) - c.1319T>C (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10790243 | 446 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 5:g.5489402C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489402C>T Locations: - p.Thr446Ile (EnsemblPlants:AT5G16715.1) - c.1337C>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5489666_T_A | 484 | V>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: 5:g.5489666T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489666T>A Locations: - p.Val484Asp (EnsemblPlants:AT5G16715.1) - c.1451T>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5489675_A_T | 487 | D>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 5:g.5489675A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5489675A>T Locations: - p.Asp487Val (EnsemblPlants:AT5G16715.1) - c.1460A>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5490025_C_G | 535 | T>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 5:g.5490025C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5490025C>G Locations: - p.Thr535Ser (EnsemblPlants:AT5G16715.1) - c.1604C>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00625856 | 542 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.99) Somatic: No Accession: 5:g.5490045G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5490045G>T Locations: - p.Ala542Ser (EnsemblPlants:AT5G16715.1) - c.1624G>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5490908_C_T | 638 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 5:g.5490908C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5490908C>T Locations: - p.Thr638Ile (EnsemblPlants:AT5G16715.1) - c.1913C>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5490931_G_T | 646 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 5:g.5490931G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5490931G>T Locations: - p.Ala646Ser (EnsemblPlants:AT5G16715.1) - c.1936G>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5490938_C_T | 648 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 5:g.5490938C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: 5:g.5490938C>T Locations: - p.Thr648Ile (EnsemblPlants:AT5G16715.1) - c.1943C>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5490965_T_A | 657 | F>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 5:g.5490965T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5490965T>A Locations: - p.Phe657Tyr (EnsemblPlants:AT5G16715.1) - c.1970T>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06977973 | 674 | L>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: 5:g.5491015T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5491015T>A Locations: - p.Leu674Met (EnsemblPlants:AT5G16715.1) - c.2020T>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00625869 | 747 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 5:g.5491751G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: 5:g.5491751G>A Locations: - p.Gly747Ser (EnsemblPlants:AT5G16715.1) - c.2239G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5491781_G_A | 757 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: 5:g.5491781G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5491781G>A Locations: - p.Val757Ile (EnsemblPlants:AT5G16715.1) - c.2269G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5492420_G_A | 827 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 5:g.5492420G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492420G>A Locations: - p.Glu827Lys (EnsemblPlants:AT5G16715.1) - c.2479G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10790319 | 854 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: 5:g.5492606A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492606A>G Locations: - p.Lys854Arg (EnsemblPlants:AT5G16715.1) - c.2561A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10790319 | 854 | K>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: 5:g.5492606A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492606A>C Locations: - p.Lys854Thr (EnsemblPlants:AT5G16715.1) - c.2561A>C (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5492671_G_T | 876 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 5:g.5492671G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492671G>T Locations: - p.Gly876Cys (EnsemblPlants:AT5G16715.1) - c.2626G>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5492864_G_T | 897 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 5:g.5492864G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492864G>T Locations: - p.Ala897Ser (EnsemblPlants:AT5G16715.1) - c.2689G>T (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
tmp_5_5492867_G_A | 898 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 5:g.5492867G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492867G>A Locations: - p.Ala898Thr (EnsemblPlants:AT5G16715.1) - c.2692G>A (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14053465 | 915 | K>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: 5:g.5492919A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492919A>C Locations: - p.Lys915Thr (EnsemblPlants:AT5G16715.1) - c.2744A>C (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00625873 | 924 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: 5:g.5492945A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: Genomic location: 5:g.5492945A>G Locations: - p.Ile924Val (EnsemblPlants:AT5G16715.1) - c.2770A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10790322 | 946 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 5:g.5493141A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: 5:g.5493141A>G Locations: - p.Glu946Gly (EnsemblPlants:AT5G16715.1) - c.2837A>G (EnsemblPlants:AT5G16715.1) Source type: large scale study Cross-references: |