Q9TTI7 · PIT1_CANLF
- ProteinPituitary-specific positive transcription factor 1
- GenePOU1F1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids291 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3350548780 | 81 | F>L | may be a predisposing factor for congenital dwarfism (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_051835.1:g.763431C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_051835.1:g.763431C>A Locations: - p.Phe81Leu (Ensembl:ENSCAFT00845045738) - c.243C>A (Ensembl:ENSCAFT00845045738) - p.Phe81Leu (UniProt:Q9TTI7) Source type: mixed Cross-references: - EVA: rs3350548780 | |||||||
rs3351201728 | 137 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_051835.1:g.763597A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_051835.1:g.763597A>G Locations: - p.Asn137Asp (Ensembl:ENSCAFT00845045738) - c.409A>G (Ensembl:ENSCAFT00845045738) Source type: large scale study Cross-references: - EVA: rs3351201728 | |||||||
rs3351529271 | 139 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_051835.1:g.763603T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_051835.1:g.763603T>C Locations: - p.Phe139Leu (Ensembl:ENSCAFT00845045738) - c.415T>C (Ensembl:ENSCAFT00845045738) Source type: large scale study Cross-references: - EVA: rs3351529271 |