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Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene


Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene



Mammalian Genome: Official Journal of the International Mammalian Genome Society 19(9): 654-661



ISSN/ISBN: 0938-8990

PMID: 18836774

DOI: 10.1007/s00335-008-9143-8

In this work we have analyzed the genetic variation that can alter the expression and the function of the VHL gene using computational methods. Of 110 single nucleotide polymorphisms (SNPs), 33 were found to be nonsynonymous (nsSNPs) and 23 SNPs were found in untranslated regions. Of the 33 nsSNPs investigated, 36.3% were found to be deleterious by both SIFT and PolyPhen servers.

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Accession: 022254080

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