L120Q (p.Leu120Gln) variant of INSR (Insulin receptor)
L120Q (p.Leu120Gln) in INSR (Insulin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LEPRCH. The record also includes published literature and structural context.
L120Q (p.Leu120Gln) variant details
- p.Leu120Gln
- UniProt VAR 031518
- Pathogenic
- in LEPRCH
- Missense
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes… (PMID 12970295)
- Cited in: Genotype-phenotype correlation in inherited severe insulin resistance. (PMID 12023989)