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How does the E173A mutation impact this binding?
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Six features were selected to build a classifier: the reference allele, the substituted allele, the mutation type, the mutation impact, the subcellular location and the protein domain.
Given the large number of proteins involved in translation, and the relatively new advent of whole-exome and genome sequencing, it is clear we are just beginning to realize the spectrum of disease-causing mutations impacting this essential biological process.
In order to comprehensively extract mutation impacts, the detection of several named entities and their relations, in particular mutations and protein properties, is required.
To estimate the likelihood that a mutation impacted the protein functionally, predictions were made based on PROVEAN (Choi et al. 2012).
More studies are required to understand how these non-neutral mutations impact the biological network.
Meanwhile, presenilin mutations impact the cleavage of numerous proteins also with synaptic functions.
Future work further clarifying how TRPM8 mutations impact the channel may provide better clues to which direction pharmacological approaches should take, activating or blocking channel function.
Better knowledge of PIK3CA mutation impact requires the identification of downstream target genes and signaling pathways activated by aberrant PI3K/AKT signaling.
The extracted entities are populated to an OWL-DL Mutation Impact ontology facilitating complex querying for mutation impacts using SPARQL.
We present an ontology model for mutation impacts, together with a comprehensive text mining system for extracting and analysing mutation impact information from full-text articles.
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CEO of Professional Science Editing for Scientists @ prosciediting.com