Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype

Abstract

The relative functional properties of Phe754 and Asp690 mutant AR receptors correlate broadly with their specific phenotypes. Therefore, comparing the molecular consequences of novel mutations with others at the same codon may be a useful aid to AIS patient management, particularly for sex of rearing decisions when prediction of functionality is important.