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| Predicting deleterious amino acid substitutions |
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| Author(s): Ng PC, Henikoff S |
| Source: GENOME RESEARCH Volume: 11 Issue: 5 Pages: 863-874 Published: MAY 2001 |
| Times Cited: 302 References: 43 |
| Abstract: Many missense substitutions are identified in single nucleotide polymorphism (SNP) data and large-scale random mutagenesis projects. Each amino acid substitution potentially affects protein Function. We have constructed a tool that uses sequence homology to predict whether a substitution affects protein function. SIFT, which sorts intolerant from tolerant substitutions, classifies substitutions as tolerated or deleterious. A higher proportion of substitutions predicted to be deleterious by SIFT gives an affected phenotype than substitutions predicted to be deleterious by substitution scoring matrices in three test cases, Using SIFT before mutagenesis studies could reduce the number of functional assays required and yield a higher proportion of affected phenotypes. SIFT may be used to identify plausible disease candidates among the SNPs that cause missense substitutions. |
| Document Type: Article |
| Language: English |
| Reprint Address: Henikoff, S (reprint author), Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA |
Addresses:
1. Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA
2. Univ Washington, Dept Bioengn, Seattle, WA 98105 USA
3. Howard Hughes Med Inst, Seattle, WA 98109 USA |
| Publisher: COLD SPRING HARBOR LAB PRESS, 1 BUNGTOWN RD, PLAINVIEW, NY 11724 USA |
| Subject Category: Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity |
| IDS Number: 429DW |
| ISSN: 1088-9051 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |