Molecular mechanisms of disease-causing missense mutations

S Stefl, H Nishi, M Petukh, AR Panchenko… - Journal of molecular …, 2013 - Elsevier
Genetic variations resulting in a change of amino acid sequence can have a dramatic effect
on stability, hydrogen bond network, conformational dynamics, activity and many other …

Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins

TG Kucukkal, M Petukh, L Li, E Alexov - Current opinion in structural biology, 2015 - Elsevier
Highlights•Missense mutations frequently alter protein biophysical characteristics such as
stability, dynamics and interactions.•Protein biophysical properties are interrelated and …

[HTML][HTML] DelPhi: a comprehensive suite for DelPhi software and associated resources

L Li, C Li, S Sarkar, J Zhang, S Witham, Z Zhang… - BMC biophysics, 2012 - Springer
Background Accurate modeling of electrostatic potential and corresponding energies
becomes increasingly important for understanding properties of biological macromolecules …

The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein–protein interactions

CM Yates, MJE Sternberg - Journal of molecular biology, 2013 - Elsevier
Non-synonymous single nucleotide polymorphisms (nsSNPs) are single base changes
leading to a change to the amino acid sequence of the encoded protein. Many of these …

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein …

L Boccuto, K Aoki, H Flanagan-Steet… - Human molecular …, 2014 - academic.oup.com
Abstract 'Salt & Pepper'syndrome is an autosomal recessive condition characterized by
severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features …

[HTML][HTML] Analysis and interpretation of the impact of missense variants in cancer

M Petrosino, L Novak, A Pasquo, R Chiaraluce… - International Journal of …, 2021 - mdpi.com
Large scale genome sequencing allowed the identification of a massive number of genetic
variations, whose impact on human health is still unknown. In this review we analyze, by an …

Analyzing effects of naturally occurring missense mutations

Z Zhang, MA Miteva, L Wang… - … mathematical methods in …, 2012 - Wiley Online Library
Single‐point mutation in genome, for example, single‐nucleotide polymorphism (SNP) or
rare genetic mutation, is the change of a single nucleotide for another in the genome …

Protein–protein interaction sites are hot spots for disease‐associated nonsynonymous SNPs

A David, R Razali, MN Wass, MJE Sternberg - Human mutation, 2012 - Wiley Online Library
Many nonsynonymous single nucleotide polymorphisms (nsSNPs) are disease causing due
to effects at protein‐protein interfaces. We have integrated a database of the three …

On human disease‐causing amino acid variants: Statistical study of sequence and structural patterns

M Petukh, TG Kucukkal, E Alexov - Human mutation, 2015 - Wiley Online Library
Statistical analysis was carried out on large set of naturally occurring human amino acid
variations, and it was demonstrated that there is a preference for some amino acid …

On the role of electrostatics in protein–protein interactions

Z Zhang, S Witham, E Alexov - Physical biology, 2011 - iopscience.iop.org
The role of electrostatics in protein–protein interactions and binding is reviewed in this
paper. A brief outline of the computational modeling, in the framework of continuum …