C53S (p.Cys53Ser) variant of TGM1 (P22735)
C53S (p.Cys53Ser) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ARCI1. The record also includes published literature and structural context.
C53S (p.Cys53Ser) variant details
- p.Cys53Ser
- UniProt VAR 058638
- Pathogenic
- in ARCI1
- Missense
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PMID 11251583)