W439S (p.Trp439Ser) variant of INSR (Insulin receptor)
W439S (p.Trp439Ser) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leprechaunism syndrome. The record also includes published literature and structural context.
W439S (p.Trp439Ser) variant details
- p.Trp439Ser
- rs121913158
- ClinGen CA124269
- ClinVar RCV000015825
- UniProt VAR 015542
- Pathogenic
- Leprechaunism syndrome
- Missense
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)
- Cited in: A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding. (PMID 8188715)