R89L (p.Arg89Leu) variant of INS (Insulin)
R89L (p.Arg89Leu) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu. The record also includes published literature and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- rs28933985
- ClinGen CA123082
- ClinVar RCV000014313
- UniProt VAR 003975
- Pathogenic
- Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu
- Missense
- ClinVar: Pathogenic (Hyperproinsulinemia)
- EBI: Pathogenic (in HPRI)
- UniProt: Pathogenic (in HPRI)
- Structural context available
- Cited in: A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto). (PMID 1601997)
- Cited in: Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at… (PMID 2196279)