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The Scientific World Journal
Volume 2013, Article ID 948617, 10 pages
Research Article

Feature-Based Classification of Amino Acid Substitutions outside Conserved Functional Protein Domains

Centre for Multidisciplinary Research and Engineering, Vinca Institute of Nuclear Sciences, University of Belgrade, 12-14 Mihajla Petrovica Alasa, 11001 Belgrade, Serbia

Received 30 August 2013; Accepted 24 September 2013

Academic Editors: J. Golebiowski and J. Yu

Copyright © 2013 Branislava Gemovic et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

The amino acid substitutions in ASXL1, EZH2, DNMT3 and TET2 were collected from three sources: literature, COSMIC database and dbSNP database. Literature was scanned for the information on the substitutions in these four genes and their somatic/germline origin. The search of these sources resulted in the dataset of 314 amino acid substitutions. 194 mutations met the two following criteria: i) they were shown to be somatic in the literature and/or ii) they were present in the COSMIC database. The database bellow contains additional information about the type of cancer/s mutations are associated with. For the 120 SNPs, the criteria were as follows: i) they were shown to be in the germline in the literature and/or ii) they were present in the dbSNP database, with known frequency in the general population.

  1. Supplementary Material