Q9SIK7 · PSNB_ARATH
- ProteinPresenilin-like protein At2g29900
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids397 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH00254193 | 4 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: 2:g.12749846A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12749846A>G Locations: - p.Asn4Asp (EnsemblPlants:AT2G29900.1) - c.10A>G (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12749859_G_C | 8 | R>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: 2:g.12749859G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12749859G>C Locations: - p.Arg8Thr (EnsemblPlants:AT2G29900.1) - c.23G>C (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626913 | 15 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12749879G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12749879G>T Locations: - p.Gly15Cys (EnsemblPlants:AT2G29900.1) - c.43G>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13472788 | 48 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: 2:g.12749978G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12749978G>A Locations: - p.Ala48Thr (EnsemblPlants:AT2G29900.1) - c.142G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00254194 | 55 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12750000C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750000C>T Locations: - p.Thr55Ile (EnsemblPlants:AT2G29900.1) - c.164C>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750042_A_T | 69 | K>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12750042A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750042A>T Locations: - p.Lys69Ile (EnsemblPlants:AT2G29900.1) - c.206A>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626917 | 71 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: 2:g.12750047G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750047G>T Locations: - p.Val71Leu (EnsemblPlants:AT2G29900.1) - c.211G>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626919 | 94 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12750116C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750116C>T Locations: - p.Leu94Phe (EnsemblPlants:AT2G29900.1) - c.280C>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14570655 | 107 | M>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12750156T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750156T>A Locations: - p.Met107Lys (EnsemblPlants:AT2G29900.1) - c.320T>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750158_G_A | 108 | G>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: 2:g.12750158G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750158G>A Locations: - p.Gly108Ser (EnsemblPlants:AT2G29900.1) - c.322G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626923 | 114 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: 2:g.12750176G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750176G>A Locations: - p.Val114Ile (EnsemblPlants:AT2G29900.1) - c.340G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626924 | 123 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 2:g.12750205A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750205A>T Locations: - p.Leu123Phe (EnsemblPlants:AT2G29900.1) - c.369A>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750304_G_T | 156 | M>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: 2:g.12750304G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750304G>T Locations: - p.Met156Ile (EnsemblPlants:AT2G29900.1) - c.468G>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626927 | 191 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12750407C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750407C>T Locations: - p.Leu191Phe (EnsemblPlants:AT2G29900.1) - c.571C>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750609_G_A | 258 | R>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: 2:g.12750609G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750609G>A Locations: - p.Arg258Gln (EnsemblPlants:AT2G29900.1) - c.773G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750626_G_A | 264 | V>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: 2:g.12750626G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750626G>A Locations: - p.Val264Ile (EnsemblPlants:AT2G29900.1) - c.790G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13472793 | 268 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: 2:g.12750638G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750638G>A Locations: - p.Glu268Lys (EnsemblPlants:AT2G29900.1) - c.802G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626930 | 271 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.74) Somatic: No Accession: 2:g.12750647G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750647G>A Locations: - p.Glu271Lys (EnsemblPlants:AT2G29900.1) - c.811G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750650_G_C | 272 | E>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: 2:g.12750650G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750650G>C Locations: - p.Glu272Gln (EnsemblPlants:AT2G29900.1) - c.814G>C (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750657_T_G | 274 | V>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: 2:g.12750657T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750657T>G Locations: - p.Val274Gly (EnsemblPlants:AT2G29900.1) - c.821T>G (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05626931 | 280 | A>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 2:g.12750675C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750675C>T Locations: - p.Ala280Val (EnsemblPlants:AT2G29900.1) - c.839C>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750749_G_A | 305 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 2:g.12750749G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750749G>A Locations: - p.Gly305Arg (EnsemblPlants:AT2G29900.1) - c.913G>A (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750846_T_C | 337 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 2:g.12750846T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750846T>C Locations: - p.Val337Ala (EnsemblPlants:AT2G29900.1) - c.1010T>C (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
ENSVATH14570658 | 355 | L>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12750901G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750901G>T Locations: - p.Leu355Phe (EnsemblPlants:AT2G29900.1) - c.1065G>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750912_A_T | 359 | Q>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 2:g.12750912A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750912A>T Locations: - p.Gln359Leu (EnsemblPlants:AT2G29900.1) - c.1076A>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750916_G_T | 360 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.12750916G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750916G>T Locations: - p.Lys360Asn (EnsemblPlants:AT2G29900.1) - c.1080G>T (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: | |||||||
tmp_2_12750974_C_G | 380 | R>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 2:g.12750974C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: Genomic location: 2:g.12750974C>G Locations: - p.Arg380Gly (EnsemblPlants:AT2G29900.1) - c.1138C>G (EnsemblPlants:AT2G29900.1) Source type: large scale study Cross-references: |