ClinVar

Ardon et al. (2014) stated that this mutation is c.3572G-A in exon 20 and results in an amino acid change arg1191 to gln (R1191Q), according to a revised INSR sequence (GenBank NC_000019). Ardon et al. (2014) noted that this mutation has also been classified as arg1164 to gln (R1164Q).

In a patient with noninsulin-dependent diabetes mellitus (125853), Cocozza et al. (1992) identified an abnormality in exon 20 of the INSR gene by denaturing gradient gel electrophoresis (DGGE). Sequencing showed heterozygosity for a change of codon 1152 from CGG to CAG, resulting in replacement of arginine with glutamine (ARG1152GLN, R1152Q). Although autophosphorylation of the purified insulin receptor seemed to be normal and the insulin binding to intact erythrocytes from the patient was in the normal range, the purified insulin receptor showed no detectable activity toward an exogenous substrate.

Esposito et al. (1995) screened a cohort of 68 Italian NIDDM patients and 65 controls for INSR R1152Q and did not find the variant in any patients or controls. The authors concluded that the R1152Q variant is not involved in the development of NIDDM in the Italian population.