Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus

✍ Scribed by Sandra Mammarella; Beatrice Creati; Diana L. Esposito; Paola Arcuri; Fulvio Della Loggia; Fabio Capani; Renato Mariani-Costantini; Felice Giacomo Caramia; Pasquale Battista; Alessandro Cama

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 41 KB
• Volume: 11
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1998)11:5<411::aid-humu12>3.0.co;2-#

✦ Synopsis

We analyzed by SSCP the complete IRS-1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restriction enzymes indicated that the novel sequence variants segregate on the same allele. Relatives of patient #25 D were not available for study, to confirm segregation of the novel allele with NIDDM in the family. Several lines of evidence suggest that the non-conservative amino acid