✦ LIBER ✦

SNPs, protein structure, and disease

✍ Scribed by Zhen Wang; John Moult

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 357 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22

No coin nor oath required. For personal study only.

✦ Synopsis

Inherited disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs). The mechanisms by which this occurs are still poorly understood. We have analyzed the effect of a set of disease-causing missense mutations arising from SNPs, and a set of newly determined SNPs from the general population. Results of in vitro mutagenesis studies, together with the protein structural context of each mutation, are used to develop a model for assigning a mechanism of action of each mutation at the protein level. Ninety percent of the known disease-causing missense mutations examined fit this model, with the vast majority affecting protein stability, through a variety of energy related factors. In sharp contrast, over 70% of the population set are found to be neutral. The remaining 30% are potentially involved in polygenic disease. Hum Mutat 17:263-270, 2001.

📜 SIMILAR VOLUMES

Protein–protein interaction sites are ho

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

✍ Alessia David; Rozami Razali; Mark N. Wass; Michael J.E. Sternberg 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 199 KB

Many nonsynonymous single nucleotide polymorphisms (nsSNPs) are disease causing due to effects at protein-protein interfaces. We have integrated a database of the three-dimensional (3D) structures of human protein/protein complexes and the humsavar database of nsSNPs. We analyzed the location of nsS

Kank proteins: structure, functions and

Kank proteins: structure, functions and diseases

✍ N. Kakinuma; Y. Zhu; Y. Wang; B. C. Roy; R. Kiyama 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 405 KB

SNP alleles in human disease and evoluti

SNP alleles in human disease and evolution

✍ B. S. Shastry 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 198 KB

Prediction of functional regulatory SNPs

Prediction of functional regulatory SNPs in monogenic and complex disease

✍ Yiqiang Zhao; Wyatt T. Clark; Matthew Mort; David N. Cooper; Predrag Radivojac; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 267 KB

Next-generation sequencing (NGS) technologies are yielding ever higher volumes of human genome sequence data. Given this large amount of data, it has become both a possibility and a priority to determine how disease-causing single nucleotide polymorphisms (SNPs) detected within gene regulatory regio

SNPs in disease gene mapping, medicinal

SNPs in disease gene mapping, medicinal drug development and evolution

✍ Barkur S. Shastry 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 217 KB

First- and second-shell metal binding re

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs

✍ Ronen Levy; Vladimir Sobolev; Marvin Edelman 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 322 KB