INSR
Gene name: insulin receptorOMIM ID: 147670
Chromosome location: 19p13.2
Mutations
| Disease/Phenotype | Diabetes mellitus, insulin-resistant, with acanthosis nigricans |
|---|---|
| Reference transcript | NM_000208.2 |
| DNA Change | c.836G>A |
| A.A. Change | p.Arg279His |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D Haens E, Kleijer WJ, Fery F, van der Zon GC.Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7. |