Accounting for Human Polymorphisms Predicted to Affect Protein Function
Genome Research2002Vol. 12(3), pp. 436–446
Citations Over Time
Abstract
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's health. We used the SIFT (Sorting Intolerant From Tolerant) program to predict that 25% of 3084 nsSNPs from dbSNP, a public SNP database, would affect protein function. Some of the nsSNPs predicted to affect function were variants known to be associated with disease. Others were artifacts of SNP discovery. Two reports have indicated that there are thousands of damaging nsSNPs in an individual's human genome; we find the number is likely to be much lower.
Related Papers
- → Verification of 525 coding SNPs in 179 hypertension candidate genes in the Japanese population: identification of 159 SNPs in 93 genes(2002)45 cited
- → Current Research Status, Databases and Application of Single Nucleotide Polymorphism(2010)14 cited
- → SNP-Flankplus: SNP ID-centric retrieval for SNP flanking sequences(2008)18 cited
- → Single-nucleotide polymorphisms in the public domain: how useful are they?(2001)164 cited
- → Prediction of single nucleotide polymorphisms (SNPs) in apolipoprotein E gene and their possible associations with a deleterious effect on the structure and functional properties: an in silico approach(2018)3 cited