Journal
NUCLEIC ACIDS RESEARCH
Volume 31, Issue 13, Pages 3568-3571Publisher
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkg616
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Funding
- NCI NIH HHS [R33 CA088351, CA88351, R21 CA088351] Funding Source: Medline
- NHGRI NIH HHS [HG01696, R01 HG001696] Funding Source: Medline
- NIGMS NIH HHS [GM42699, R01 GM042699, R37 GM042699] Funding Source: Medline
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Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements.
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