Accounting for human polymorphisms predicted to affect protein function.

Pauline C Ng; Steven Henikoff

doi:10.1101/gr.212802

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Accounting for human polymorphisms predicted to affect protein function.

Pauline C Ng·Steven Henikoff

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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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Amino Acid Motifs Amino Acid Sequence Amino Acid Substitution Chromosome Mapping Databases, Protein False Positive Reactions Genes Humans Molecular Sequence Data Mutation Polymorphism, Genetic Polymorphism, Single Nucleotide Proteins Pseudogenes Sequence Analysis, DNA Software Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

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Pauline C Ng, Steven Henikoff. 2002. Accounting for human polymorphisms predicted to affect protein function.. https://doi.org/10.1101/gr.212802

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