Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

INSR

Gene name: insulin receptor
OMIM ID: 147670
Chromosome location: 19p13.2

Mutations

Disease/PhenotypeDiabetes mellitus, insulin-resistant, with acanthosis nigricans
Reference transcriptNM_000208.2
DNA Changec.836G>A
A.A. Changep.Arg279His
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceMaassen 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.