N489D (p.Asn489Asp) variant of INSR (Insulin receptor)
N489D (p.Asn489Asp) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in IRAN type A. The record also includes published literature and structural context.
N489D (p.Asn489Asp) variant details
- p.Asn489Asp
- rs1135401742
- ClinVar RCV000496626
- UniProt VAR 079538
- Ensembl rs1135401742
- no classification for the single variant
- in IRAN type A
- Missense
- ClinVar: no classification for the single variant (in IRAN type A)
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Structural context available
- Cited in: Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. (PMID 28765322)
- Cited in: Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. (PMID 10733238)