Accounting for human polymorphisms predicted to affect protein function.
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ABSTRACT:
SUBMITTER: Ng PC
PROVIDER: S-EPMC155281 | biostudies-literature | 2002 Mar
REPOSITORIES: biostudies-literature
Publications
Accounting for human polymorphisms predicted to affect protein function.
Ng Pauline C PC Henikoff Steven S
Genome research 20020301 3
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 disco ...[more]
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