Background and aims:Protein Kinases having significant effects on signal transduction as well as most of the cellular processes, frequently causes diseases. A large number of disease-causing mutations have been recognized from several protein kinases. Therefore, KinMutBase database, a comprehensive database for diseases causing mutations in Protein Kinase domain was established previously, where all the mutation related information was positioned. Protein kinases are related with numerous life threatening diseases including cancers. Hence to analyze pathogenic mutations in kinase domain level to figure out the characterization of mutation pattern was the crucial concern of this thesis work.

Methods:KinMutBase were thoroughly updated with new mutations as well as new gene entries where mutations are happening in their kinase domain range. Gene and respective protein sequences reported in the dataset were downloaded to perform Multiple Sequence Alignment. Conserving all those sequence to rearrange the mutation positions, BioEdit, software for assembling conserved sequence was used. By this mean, every mutation had given to new positions in the sequence file. In conclusion, statistical analyses were performed withRto examine mutation pattern. In addition, mutation pattern and mutation rate of Protein Serine/ Threonine kinase group as well as Protein Tyrosine kinase group in comparison with background data set (Faisal I., 2012) was also calculated for individual amino acids and for different amino acid groups.

Results:From this study it can be proposed that several genes like as ACVRL1, STK11, and BTK could be easily mutated in any amino acid positions between their kinase ranges. Yet again, in kinase range some amino acid like Arginine (R) can be easily and frequently mutated. Leucine (L) has also a good chance for mutation readily. Certain position in MSA files which also have chance where mutations can happen quiet frequently has been figure out.

Conclusion:Throughout the kinase region, several proteins, some certain amino acids as well as some specific positions are identified for causing mutations in genomic level. Specially, Non polar aliphatic amino acid group has the higher tendency for causing mutations which easily leads to diseases. 

Keywords: Protein kinases, Serine/Threonine kinases, Tyrosine Kinases, diseases causing mutations in kinase domain, KinMutBase database