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) 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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关键词：
Humans Proteins False Positive Reactions Chromosome Mapping Amino Acid Substitution Sequence Analysis, DNA Mutation Polymorphism, Genetic Pseudogenes Amino Acid Sequence
DOI：
10.1101/gr.212802
被引量：
年份：
2002
BMJ
掌桥科研
万方医学
doi.org
dx.doi.org
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