期刊名称：International Journal of Fundamental and Applied Sciences
印刷版ISSN：2278-1404
出版年度：2018
卷号：7
期号：4
页码：6-9
出版社：BioMedAsia
摘要：Background: Many nucleotide variations in the human genome remain uncharacterized even more than ten years
after the first draft was published. Objective: A three-parameter nucleotide-based scoring function was designed to
predict the possible pathogenicity of 163 uncharacterized but validated missense mutations of the c-MET oncogene.
Methodology: The parameters used by the scoring function were: surrounding consensus regions in a multiple
sequence alignment of the human c-MET oncogene and five orthologous variants, inter-species allele frequency of
each human missense mutation, and the nature of the mutation. Results: Out of 163 variants of unknown
significance, 99 and 52 mutations were characterized as likely pathogenic and pathogenic respectively. An analysis of
nine variants of known significance revealed that this scoring function could classify six out of nine (66.67%) variants
with a reasonable accuracy.
