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

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]...

Descripción completa

Detalles Bibliográficos
Autores principales: Khajuria, Ragini, Walia, Rama, Bhansali, Anil, Prasad, Rajendra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Proteomics and Biochemistry
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993105/
https://www.ncbi.nlm.nih.gov/pubmed/29892641
http://dx.doi.org/10.1016/j.dib.2018.05.043
_version_ 1783330172824453120
author Khajuria, Ragini
Walia, Rama
Bhansali, Anil
Prasad, Rajendra
author_facet Khajuria, Ragini
Walia, Rama
Bhansali, Anil
Prasad, Rajendra
author_sort Khajuria, Ragini
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5993105
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-59931052018-06-11 Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients Khajuria, Ragini Walia, Rama Bhansali, Anil Prasad, Rajendra Data Brief Proteomics and Biochemistry 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. Elsevier 2018-05-19 /pmc/articles/PMC5993105/ /pubmed/29892641 http://dx.doi.org/10.1016/j.dib.2018.05.043 Text en © 2018 Published by Elsevier Inc. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Proteomics and Biochemistry
Khajuria, Ragini
Walia, Rama
Bhansali, Anil
Prasad, Rajendra
Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients
title Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients
title_full Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients
title_fullStr Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients
title_full_unstemmed Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients
title_short Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients
title_sort data on the functional consequences of the mutations identified in 21-hydroxylase deficient cah patients
topic Proteomics and Biochemistry
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993105/
https://www.ncbi.nlm.nih.gov/pubmed/29892641
http://dx.doi.org/10.1016/j.dib.2018.05.043
work_keys_str_mv AT khajuriaragini dataonthefunctionalconsequencesofthemutationsidentifiedin21hydroxylasedeficientcahpatients
AT waliarama dataonthefunctionalconsequencesofthemutationsidentifiedin21hydroxylasedeficientcahpatients
AT bhansalianil dataonthefunctionalconsequencesofthemutationsidentifiedin21hydroxylasedeficientcahpatients
AT prasadrajendra dataonthefunctionalconsequencesofthemutationsidentifiedin21hydroxylasedeficientcahpatients

Ejemplares similares