Q56YJ8 · FAMA_ARATH
- ProteinTranscription factor FAMA
- GeneFAMA
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids414 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH10291965 | 1 | M>? | 1000Genomes | ||||
Consequence: stop gained Somatic: No Accession: 3:g.8717777_8717778insATTTGCTA Codon: ATG/AATTAGCAATG Consequence type: stop gained Cytogenetic band: Genomic location: 3:g.8717777_8717778insATTTGCTA Locations: - p.Met1? (EnsemblPlants:AT3G24140.1) - c.1_2insATTAGCAA (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05901623 | 22 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: 3:g.8717572C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717572C>G Locations: - p.Ser22Thr (EnsemblPlants:AT3G24140.1) - c.65G>C (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8717569_G_A | 23 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: 3:g.8717569G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717569G>A Locations: - p.Ser23Phe (EnsemblPlants:AT3G24140.1) - c.68C>T (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8717489_G_T | 50 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: 3:g.8717489G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717489G>T Locations: - p.Leu50Ile (EnsemblPlants:AT3G24140.1) - c.148C>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8717468_C_T | 57 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: 3:g.8717468C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717468C>T Locations: - p.Ala57Thr (EnsemblPlants:AT3G24140.1) - c.169G>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8717450_T_C | 63 | M>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 3:g.8717450T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717450T>C Locations: - p.Met63Val (EnsemblPlants:AT3G24140.1) - c.187A>G (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13989642 | 81 | N>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: 3:g.8717395T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717395T>C Locations: - p.Asn81Ser (EnsemblPlants:AT3G24140.1) - c.242A>G (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8717381_G_T | 86 | Q>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: 3:g.8717381G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717381G>T Locations: - p.Gln86Lys (EnsemblPlants:AT3G24140.1) - c.256C>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8717311_T_C | 109 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 3:g.8717311T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717311T>C Locations: - p.Glu109Gly (EnsemblPlants:AT3G24140.1) - c.326A>G (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10927340 | 129 | E>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: 3:g.8717252C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717252C>G Locations: - p.Glu129Gln (EnsemblPlants:AT3G24140.1) - c.385G>C (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05901619 | 165 | D>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: 3:g.8717144C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717144C>A Locations: - p.Asp165Tyr (EnsemblPlants:AT3G24140.1) - c.493G>T (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10927339 | 166 | R>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 3:g.8717140C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717140C>T Locations: - p.Arg166Lys (EnsemblPlants:AT3G24140.1) - c.497G>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05901618 | 182 | R>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 3:g.8717092C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Genomic location: 3:g.8717092C>T Locations: - p.Arg182Lys (EnsemblPlants:AT3G24140.1) - c.545G>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8716964_A_T | 225 | Y>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 3:g.8716964A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: Genomic location: 3:g.8716964A>T Locations: - p.Tyr225Asn (EnsemblPlants:AT3G24140.1) - c.673T>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH10927336 | 260 | I>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 3:g.8716747T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: 3:g.8716747T>G Locations: - p.Ile260Leu (EnsemblPlants:AT3G24140.1) - c.778A>C (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13989640 | 296 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.8) Somatic: No Accession: 3:g.8716639T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: 3:g.8716639T>C Locations: - p.Thr296Ala (EnsemblPlants:AT3G24140.1) - c.886A>G (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH13989638 | 334 | R>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: 3:g.8716524C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: Genomic location: 3:g.8716524C>A Locations: - p.Arg334Ile (EnsemblPlants:AT3G24140.1) - c.1001G>T (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
tmp_3_8716465_T_C | 354 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: 3:g.8716465T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Genomic location: 3:g.8716465T>C Locations: - p.Ile354Val (EnsemblPlants:AT3G24140.1) - c.1060A>G (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH05901607 | 404 | G>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: 3:g.8715559C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: 3:g.8715559C>T Locations: - p.Gly404Glu (EnsemblPlants:AT3G24140.1) - c.1211G>A (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: | |||||||
ENSVATH00344639 | 412 | V>A | 1000Genomes | ||||
Consequence: missense Somatic: No Accession: 3:g.8715535A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: 3:g.8715535A>G Locations: - p.Val412Ala (EnsemblPlants:AT3G24140.1) - c.1235T>C (EnsemblPlants:AT3G24140.1) Source type: large scale study Cross-references: |