L35P (p.Leu35Pro) variant of INS (Insulin)
L35P (p.Leu35Pro) in INS (Insulin) is a missense change. The available record places it in the context of Permanent neonatal diabetes mellitus. The record also includes published literature and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs121908273
- ClinGen CA266170
- ClinVar RCV000059608
- UniProt VAR 063727
- not provided
- Permanent neonatal diabetes mellitus
- Missense
- ClinVar: not provided (Permanent neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)
- Cited in: Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID 17855560)