European Journal of Biomedical and Pharmaceutical Sciences

PREDICTION OF STRUCTURAL AND FUNCTIONAL EFFECTS OF SINGLE NUCLEOTIDE POLYMORPHISMS IN PAX1 GENE ASSOCIATED WITH KLIPPEL–FEIL SYNDROME

Lana Salah Mohamed Salih, Afra M. AlBkrye, Hind Abdelaziz Elnasri and Mona A. M. Khaier*

ABSTRACT

Background: The PAX1 gene is a member of paired Pax family that develops control genes that which encodes transcription factor. This gene plays critical roles during fetal development and during embryogenesis and essential for development of the vertebral column. It is located in chromosome 20 at position 11.22 causing Klippel–Feil Syndrome. Materials and methods: The nsSNPs of PAX1 gene were obtained from NCBI dbSNP database and were analyzed using computational bioinformatics tools. They were analyzed by (SIFT, Polyphen-2, Provean, I- mutant, SNPs& GO, PHD, GeneMANIA and Project Hope software). Results: The total number of SNPs collected from NCBI database were 4148, 164 SNPs were in the coding region, 38 in the 3´UTRs, 3 in the 5´UTRs. Only SNPs that were found in the coding region were analyzed. Four nsSNPs were found to be deleterious and having high score in all software used (rs143731938, rs147752664, rs199692693, rs372580256), they were also predicted to change protein stability.

Keywords: .