International Journal of Biomedical Science and Engineering
Volume 7, Issue 4, December 2019, Pages: 85-91
Received: Aug. 15, 2019;
Accepted: Nov. 8, 2019;
Published: Dec. 23, 2019
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Rashid Abualamah Albasheer Abbas, Department of Molecular Biology and Bioinformatics, College of Veterinary Medicine, University of Bahri, Khartoum, Sudan
Afra Mohamed Suliman Albakry, Department of Molecular Biology and Bioinformatics, College of Veterinary Medicine, University of Bahri, Khartoum, Sudan
Mona Abdelrahman Mohamed Khaier, Department of Molecular Biology and Bioinformatics, College of Veterinary Medicine, University of Bahri, Khartoum, Sudan
Hind Abdelaziz Elnasri, Department of Molecular Biology and Bioinformatics, College of Veterinary Medicine, University of Bahri, Khartoum, Sudan
Glucose galactose malabsorption (GGM) is an autosomal recessive disease manifesting within the first weeks of life. It is characterized by a selective failure to absorb dietary glucose and galactose from the intestine leading to severe life threatening diarrhea and dehydration. Mutations in the Na+/glucose co-transporter gene (SLC5A1 gene) have been determined to be associated with congenital GGM. In this study different computational tools were used to investigate the nsSNPs (Single nucleotide polymorphisms) in the SLC5A1 gene and to determine their effects on the protein function and structure. SLC5A1 gene was investigated in NCBI database and SNPs were analyzed using seven computational software (SIFT, Polyphen-2, PROVEAN, SNPs and GO, PHD-SNPs, I-mutant and MU Pro). The protein structural analysis was done by modeling using Project Hope and Chimera after homology modeling by CPH models 3.2. In addition Gene MANIA software was used to study the association between this gene and related ones. A total of 166 nsSNPs were obtained from the SNPs database in NCBI during 2019. A total of 37 SNP were predicted to be deleterious using SIFT software, while 25 SNPs were predicted to be probably damaging by PolyPhen-2 and 30 SNPs were predicted to be deleterious by PROVEAN. The results of SIFT, PolyPhen-2, PROVEAN, SNPs&GO, PHD-SNP collectively revealed that 16 SNPs were predicted to be highly damaging.
Rashid Abualamah Albasheer Abbas,
Afra Mohamed Suliman Albakry,
Mona Abdelrahman Mohamed Khaier,
Hind Abdelaziz Elnasri,
Computational Analysis of Single Nucleotide Polymorphism (SNPs) in HumanSLC5A1 Gene, International Journal of Biomedical Science and Engineering.
Vol. 7, No. 4,
2019, pp. 85-91.
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