Bioinformatics Analysis of Functional SNPs in Human ASAH1 Gene Related to Farber Disease
2022
Oktay, E. O.
Farber disease is a rare lysosomal storage disorder resulted from mutations in the ASAH1 gene codes acid ceramidase. The present study aimed to analyze the possible effect of amino acid substitutions caused by missense single nucleotide polymorphisms (SNP) on the acid ceramidase structure, stability and function via in silico. For this aim, a series of publicly available bioinformatics tools were run to estimate the impact of each SNPs on the function and construction of the protein. rs137853594 (E138V), rs137853596 (N320D), rs371666412 (Y137C), rs150446749 (N160D), rs150585094 (W314R), and rs189008507 (T319I) polymorphisms were determined to show the highest deleterious impact on the function and construction of the protein and those SNPs were considered as high-risk SNPs among all variants analyzed. 4 SNPs among them were estimated to decrease protein stability. These findings were confirmed by using their three-dimensional structures of the mutant protein. It is hoped that these findings will contribute to the genetics of Farber disease which is a rare disease and will contribute to future experimental and in silico studies.
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