F53C (p.Phe53Cys) variant of TTR (Transthyretin)
F53C (p.Phe53Cys) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Amyloidosis, hereditary systemic 1. The record also includes published literature and structural context.
F53C (p.Phe53Cys) variant details
- p.Phe53Cys
- UniProt VAR 038963
- Pathogenic/Likely pathogenic
- not provided; Amyloidosis, hereditary systemic 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance (in a patient with amyloidosis)
- UniProt: Uncertain significance (in a patient with amyloidosis)
- Structural context available
- Cited in: Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed… (PMID 12876326)
- Cited in: Identification of transthyretin variants by sequential proteomic and genomic analysis. (PMID 15217993)