Khajuria Ragini, Walia Rama, Bhansali Anil, Prasad Rajendra
Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Data Brief. 2018 May 19;19:244-248. doi: 10.1016/j.dib.2018.05.043. eCollection 2018 Aug.
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 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.
本文展示了先天性肾上腺皮质增生症（CAH）患者中CYP21A2基因突变功能特征的数据集，如《先天性肾上腺皮质增生症患者基因中突变的功能特征与分子建模》（Khajuria等人，2018年）[1]所述。该数据集包含通过生物信息学工具（突变严重程度预测软件）对突变的鉴定及其功能特征。分子建模使我们能够在21-羟化酶蛋白的三维模型中定位患者发生突变的氨基酸残基位点。
