Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

Abstract

This article presents the data set regarding the functional characterization of mutations in CYP21A2 gene in CAH patients as described in “Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia (Khajuria et al., 2018) [1]. This data set features about the identification of mutations and their functional characterization by bioinformatic tools (mutation severity prediction softwares). Molecular modeling enabled us to locate the site of the amino-acid residues in 3-Dimensional model of 21-Hydroxylase protein which were mutated in patients.