Files and links (1)
Published, Version of Record (VoR)CC BY V4.0, Open
Journal article
Domain Altering SNPs in the Human Proteome and Their Impact on Signaling Pathways
PloS one, v 5(9), pp e12890-e12890
23 Sep 2010
PMID: 20886114
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Single nucleotide polymorphisms (n-SNPs) constitute an important mode of genetic variations observed in the human genome. A small fraction of SNPs, about four thousand out of the ten million, has been associated with genetic disorders and complex diseases. The present study focuses on SNPs that fall on protein domains, 3D structures that facilitate connectivity of proteins in cell signaling and metabolic pathways. We scanned the human proteome using the PROSITE web tool and identified proteins with SNP containing domains. We showed that SNPs that fall on protein domains are highly statistically enriched among SNPs linked to hereditary disorders and complex diseases. Proteins whose domains are dramatically altered by the presence of an SNP are even more likely to be present among proteins linked to hereditary disorders. Proteins with domain-altering SNPs comprise highly connected nodes in cellular pathways such as the focal adhesion, the axon guidance pathway and the autoimmune disease pathways. Statistical enrichment of domain/motif signatures in interacting protein pairs indicates extensive loss of connectivity of cell signaling pathways due to domain-altering SNPs, potentially leading to hereditary disorders.
Metrics
Details
- Title
- Domain Altering SNPs in the Human Proteome and Their Impact on Signaling Pathways
- Creators
- Yichuan Liu - Drexel UniversityAydin Tozeren - Drexel University
- Publication Details
- PloS one, v 5(9), pp e12890-e12890
- Publisher
- Public Library Science
- Number of pages
- 7
- Grant note
- BioAdvance Drexel University
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- [Retired Faculty]
- Web of Science ID
- WOS:000282091100007
- Scopus ID
- 2-s2.0-77958601765
- Other Identifier
- 991019168323504721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Web of Science research areas
- Biochemistry & Molecular Biology