Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

The functional and pathological implications of the enormous genetic diversity of the human genome are mostly unknown, primarily due to our unability to predict pathogenicity in a high-throughput manner. In this work, we characterized the phenotypic consequences of eight naturally-occurring missense...

Full description

Bibliographic Details
Main Authors:	Juan Luis Pacheco-García, Mario Cano-Muñoz, Isabel Sánchez-Ramos, Eduardo Salido, Angel L. Pey
Format:	Article
Language:	English
Published:	MDPI AG 2020-11-01
Series:	Journal of Personalized Medicine
Subjects:	missense mutation genetic disease protein structure-function genotype–phenotype correlations multifunctional proteins
Online Access:	https://www.mdpi.com/2075-4426/10/4/207

Similar Items

Effect of naturally-occurring mutations on the stability and function of cancer-associated NQO1: Comparison of experiments and computation
by: Juan Luis Pacheco-Garcia, et al.
Published: (2022-11-01)

Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings
by: Zichen Zhao, et al.
Published: (2020-01-01)

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
by: Benjamin J Livesey, et al.
Published: (2020-07-01)

Editorial: Structural understanding of the functional consequences of missense mutation
by: Jian Tian, et al.
Published: (2023-11-01)

Allosteric Communication in the Multifunctional and Redox NQO1 Protein Studied by Cavity-Making Mutations
by: Juan Luis Pacheco-Garcia, et al.
Published: (2022-06-01)

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
by: Lianmei Zhang, et al.
Published: (2020-04-01)

Mutation Edgotype Drives Fitness Effect in Human
by: Mohamed Ghadie, et al.
Published: (2021-08-01)

Targeting HIF-1α Function in Cancer through the Chaperone Action of NQO1: Implications of Genetic Diversity of NQO1
by: Eduardo Salido, et al.
Published: (2022-05-01)

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity
by: Shirou Tsuchida, et al.
Published: (2015-03-01)

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin
by: Rita Puglisi
Published: (2022-02-01)

Genotype-Phenotype Correlation for Cystic Fibrosis According to Registry Center of Cystic Fibrosis
by: Mandana Rafeey, et al.
Published: (2020-01-01)

Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis
by: Rana Mohammed Jan, et al.
Published: (2023-05-01)

Novel MIP gene mutation causes autosomal-dominant congenital cataract
by: Jing-Lan Ni, et al.
Published: (2024-03-01)

Editorial: Computational and experimental protein variant interpretation in the era of precision medicine
by: Tiziana Sanavia, et al.
Published: (2024-01-01)

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies
by: Christopher T. Esapa, et al.
Published: (2023-12-01)

Towards Accurate Genotype–Phenotype Correlations in the CYP2D6 Gene
by: Angel L. Pey
Published: (2020-10-01)

Phenotype-genotype correlation in β-thalassemia
by: R. Galanello, et al.
Published: (2011-12-01)

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family
by: Zhi-Bo Lin, et al.
Published: (2024-03-01)

MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
by: Muhammad Nawaz, et al.
Published: (2018-12-01)

Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment
by: Peiwei Zhao, et al.
Published: (2023-04-01)

Correlation studies on yield and yield components in brinjal (Solanum melongena L.)
by: P. Irene Vethamonai, D. Rameshkumar and R. Ravikesavan
Published: (2020-06-01)

Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion
by: Liene Bossaerts, et al.
Published: (2022-03-01)

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies
by: Liang Wang, et al.
Published: (2019-02-01)

Distinguishing between PTEN clinical phenotypes through mutation analysis
by: Stephanie Portelli, et al.
Published: (2021-01-01)

Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr
by: Justin D. Smith, MD, et al.
Published: (2017-04-01)

Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure
by: Raina Rhoades, et al.
Published: (2022-04-01)

A computational approach to analyze the missense mutations in human angiogenin variants leading to amyotrophic lateral sclerosis
by: K. Sreevishnupriya, et al.
Published: (2013-11-01)

Report of a rare case of congenital mitral valve prolapse with chronic kidney disease––reconsidered genotype–phenotypic correlations
by: Liping Sun, et al.
Published: (2021-01-01)

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies
by: Shi-Min Yuan
Published: (2015-12-01)

Achromatopsia caused by novel missense mutations in the CNGA3 gene
by: Xi-Teng Chen, et al.
Published: (2015-10-01)

Maternal Factor V Leiden Mutation in Preeclampsia: A Case-Control South Eastern Indian Tertiary Care Hospital Based Study
by: Krishnaveni Changalvala, et al.
Published: (2020-02-01)

Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature
by: Shuyun Deng, et al.
Published: (2022-10-01)

Correlation and path coefficient analysis among agro-morphological and biochemical traits of okra [Abelmoschus esculentus (L.) Moench] genotypes in Ethiopia
by: Jemal MOHAMMED, et al.
Published: (2020-06-01)

Preparation of a strong, high prepressing intensity, and multifunction soybean protein adhesive by using hyperbranched functional polymer
by: Zheng Liu, et al.
Published: (2023-02-01)

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
by: Petrie, K, et al.
Published: (2009)

SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
by: Kimberley Cao, et al.
Published: (2023-12-01)

Comparative Investigation of R213G Mutation in DNA-Binding Domain of P53 Protein via Molecular Dynamics Simulation
by: Elham Akbari, et al.
Published: (2021-06-01)

In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome
by: Hung Manh Pham, et al.
Published: (2023-12-01)

<i>ACTB</i> Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus
by: Shangzhi Dai, et al.
Published: (2021-12-01)

Editorial: The genetics of human Mendelian skin disorders
by: Wei Hsum Yap, et al.
Published: (2022-12-01)