Faez Iqbal Khan1, Md. Zubbair Malik1, Md. Imtaiyaz Hassan2
1Department of Computer Science, Jamia Millia Islamia, New Delhi, India.
2Centre for Interdisciplinary Research in Basic Science, Jamia Millia Islamia, Jamia Nagar, New Delhi 110025, India.
Mucopolysaccharidosis or Sly syndrome, caused by deficiency of the β-glucuronidase enzyme show wide clinical variability, with severe mental retardation, severe somatic involvement, death at an early age), skeletal abnormalities, mild delay in neuropsychomotor development, mild organomegaly, onset at adolescence, very mild somatic involvement. A form associated with fetal hydrops is also frequent. Many different disease-causing mutations have been identified in patients from Japan, Europe, the United States, Northern Africa, Kuwait, India, Mexico and Chile. There are a lists of mutations found in β-glucuronidase enzyme like mutation in exon 3 of the β-glucuronidase gene that produces a Leu → Phe substitution (L176F). We have created in-sililico mutations and minimized the energy of these mutated proteins using various bioinformatics tools and also with online tools like MUSTER, LOMETS and modweb. Further we take one suitable model of each and run CONACT program. Read more…