Q9FMQ4 · SPH3_ARATH
- ProteinS-protein homolog 3
- GeneSPH3
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids150 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH10711813 | 4 | I>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: 5:g.3895362T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895362T>A Locations: - p.Ile4Phe (EnsemblPlants:AT5G12060.1) - c.10A>T (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10711812 | 10 | H>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: 5:g.3895342A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895342A>C Locations: - p.His10Gln (EnsemblPlants:AT5G12060.1) - c.30T>G (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03049201 | 19 | K>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 5:g.3895317T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895317T>G Locations: - p.Lys19Gln (EnsemblPlants:AT5G12060.1) - c.55A>C (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3895302_G_T | 24 | Q>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: 5:g.3895302G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895302G>T Locations: - p.Gln24Lys (EnsemblPlants:AT5G12060.1) - c.70C>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3895299_C_G | 25 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: 5:g.3895299C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895299C>G Locations: - p.Val25Leu (EnsemblPlants:AT5G12060.1) - c.73G>C (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3895286_A_C | 29 | F>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: 5:g.3895286A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895286A>C Locations: - p.Phe29Cys (EnsemblPlants:AT5G12060.1) - c.86T>G (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06957360 | 32 | N>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: 5:g.3895277T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895277T>G Locations: - p.Asn32Thr (EnsemblPlants:AT5G12060.1) - c.95A>C (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10711811 | 52 | N>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.94) Somatic: No Accession: 5:g.3895216G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895216G>T Locations: - p.Asn52Lys (EnsemblPlants:AT5G12060.1) - c.156C>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3895197_C_G | 59 | D>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 5:g.3895197C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895197C>G Locations: - p.Asp59His (EnsemblPlants:AT5G12060.1) - c.175G>C (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06957359 | 64 | L>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: 5:g.3895181A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895181A>T Locations: - p.Leu64His (EnsemblPlants:AT5G12060.1) - c.191T>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00618494 | 75 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 5:g.3895147A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895147A>T Locations: - p.Phe75Leu (EnsemblPlants:AT5G12060.1) - c.225T>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10711810 | 99 | R>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 5:g.3895076C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895076C>T Locations: - p.Arg99Lys (EnsemblPlants:AT5G12060.1) - c.296G>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06957358 | 103 | Y>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 5:g.3895065A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895065A>C Locations: - p.Tyr103Asp (EnsemblPlants:AT5G12060.1) - c.307T>G (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3895044_C_T | 110 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 5:g.3895044C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895044C>T Locations: - p.Val110Ile (EnsemblPlants:AT5G12060.1) - c.328G>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3895037_C_G | 112 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: 5:g.3895037C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895037C>G Locations: - p.Ser112Thr (EnsemblPlants:AT5G12060.1) - c.335G>C (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00618493 | 113 | H>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 5:g.3895034T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895034T>C Locations: - p.His113Arg (EnsemblPlants:AT5G12060.1) - c.338A>G (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH06957357 | 118 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: 5:g.3895020T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895020T>C Locations: - p.Asn118Asp (EnsemblPlants:AT5G12060.1) - c.352A>G (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH03049200 | 121 | W>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 5:g.3895010C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: 5:g.3895010C>T Locations: - p.Trp121Ter (EnsemblPlants:AT5G12060.1) - c.362G>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00618492 | 124 | S>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: 5:g.3895000G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: 5:g.3895000G>T Locations: - p.Ser124Arg (EnsemblPlants:AT5G12060.1) - c.372C>A (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00618491 | 126 | Q>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: 5:g.3894996G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: Genomic location: 5:g.3894996G>C Locations: - p.Gln126Glu (EnsemblPlants:AT5G12060.1) - c.376C>G (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00618490 | 149 | R>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: 5:g.3894926C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: Genomic location: 5:g.3894926C>A Locations: - p.Arg149Met (EnsemblPlants:AT5G12060.1) - c.446G>T (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: | |||||||
tmp_5_3894920_T_A | 151 | *>L | 1000Genomes | ||||
Consequence: stop lost Somatic: No Accession: 5:g.3894920T>A Codon: TAA/TTA Consequence type: stop lost Cytogenetic band: Genomic location: 5:g.3894920T>A Locations: - p.Ter151LeuextTer42 (EnsemblPlants:AT5G12060.1) - c.452A>T (EnsemblPlants:AT5G12060.1) Source type: large scale study Cross-references: |