Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine

Abstract

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Functional Effects In Silico Prediction for Androgen Receptor Ligand-Binding Domain Novel I836S Mutation

“…Our previous study in a Ukrainian cohort of patients with diverse AIS clinical phenotypes identified the novel missense mutation c.2507T>G (I836S, ClinVarID: 974911) in a patient with CAIS phenotype and affected family members [ 14 ]. This missense mutation is in exon 7 (ligand-binding domain, helix 9) and results in Ile836Ser substitution ( Figure S1 ).…”

“…This missense mutation is in exon 7 (ligand-binding domain, helix 9) and results in Ile836Ser substitution ( Figure S1 ). This mutation is pathogenic, as determined by SIFT, PolyPhen, and MutationTaster [ 14 ].…”

“…We determined the phosphorylation pattern changes and suggested that several known AR-specific kinases act upon mutant Ser836. These include PKC kinase (NetPhorest); MAPK family kinases (identified using Group-based Prediction System); and CDK1, CDK7, and CDK9 kinases from the Akt and MAPK families (identified using PhosphoPICK) [ 14 , 15 , 16 , 17 ].…”