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      Accounting for human polymorphisms predicted to affect protein function.

      1 ,
      Genome research
      Cold Spring Harbor Laboratory

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          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.

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          Author and article information

          Journal
          Genome Res
          Genome research
          Cold Spring Harbor Laboratory
          1088-9051
          1088-9051
          Mar 2002
          : 12
          : 3
          Affiliations
          [1 ] Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
          Article
          10.1101/gr.212802
          155281
          11875032
          7e1156f1-c458-490a-b295-3da576743756

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