Accounting for Human Polymorphisms Predicted to Affect Protein Function

摘要: A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) gene affects its protein product and, consequently, impacts the carrier's health. We used SIFT (Sorting Intolerant From Tolerant) program predict that 25% of 3084 nsSNPs from dbSNP, public SNP database, would affect function. Some predicted function were variants known be associated with disease. Others artifacts discovery. Two reports have indicated there are thousands damaging an individual's genome; we find number likely much lower.