Bioinformatics Profiling of Missense Mutations
The ability to distinguish missense nucleotide
substitutions that contribute to harmful effect from those that do not
is a difficult problem usually accomplished through functional in
vivo analyses. In this study, instead current biochemical methods, the
effects of missense mutations upon protein structure and function
were assayed by means of computational methods and information
from the databases. For this order, the effects of new missense
mutations in exon 5 of PTEN gene upon protein structure and
function were examined. The gene coding for PTEN was identified
and localized on chromosome region 10q23.3 as the tumor
suppressor gene. The utilization of these methods were shown that
c.319G>A and c.341T>G missense mutations that were recognized in
patients with breast cancer and Cowden disease, could be pathogenic.
This method could be use for analysis of missense mutation in others
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