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It delivers the protein mutation with information about its position in text.
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The dataset in this study included 398 known pathogenic BRCA1 missense mutation carriers (mainly C61G), and 44 pathogenic BRCA2 missense mutation carriers with information on ER status or grade.
Such results were confirmed either with ARMS assay, that demonstrated a good concordance though providing information only in terms of presence/absence of classical mutations (with no information about any other alteration), and with Sanger sequencing that provides the exact nucleotide sequence (though with a lower sensitivity [ 10]).
The amino acid distributions for mutations were compared with information for all human proteins taken from Codon Usage Tabulated from GenBank (CUTG) [ 19].
Placing the mouse pointer over an annotated mutation produces a tooltip with information about the amino acid residues involved and the sequence position where the mutation occurs.
There are nine other kinases with mutation information from kinase binding assay data, i.e., BRAF, FGFR3, FLT3, KIT, MET, PIK3CA, RET, MET, and LRRK2.
Mutation information with the experimentally characterized LoF and GoF outcomes was collected from the literature.
We identified 7898 publications associated with mutation information in this resource.
We performed survival analysis in the datasets with p53 mutation status information excluding the tumors with p53 mutations.
One of the first studies to examine this question retrospectively analyzed the prognostic and predictive value of KRAS mutations among 484 patients with KRAS and EGFR mutation information available.
The database will be updated with information on mutations in specific genes that scientists will be able to access by sequence homology and/or keyword queries.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com