In silico analysis of nsSNPs in human methyl CpG binding protein 2

Publication date: Available online 20 September 2016 Source:Meta Gene Author(s): Mansi Desai, Jenabhai Chauhan Methyl CpG binding protein 2 is an abundant chromatin associated protein helps in transcriptional regulation. The MECP2 gene mutations are found to be associated with many diseases including moderate to severe X-linked mental retardation, Rett syndrome, autism and neonatal encephalopathy. So many mutations till date are reported in MECP2 gene. Only dbSNP contain >3000 SNPs in human MECP2 gene which all may not be deleterious. Therefore, it is advisable to sort out the SNPs which may alter the protein function, before experimentation on large population. To fulfill those criteria we analyzed nsSNPs from the dbSNP using various computational tools like SIFT, PANTHER, PolyPhen, SNAP2, SNPs&GO. Two SNPs, T170M and R318C predicted as the most deleterious SNPs using above tools. I-Mutant and MuSTAB showed decreased protein stability for both mutants. The structural analysis of the native and mutant protein was also performed; MUSTER was used to generate the 3D model of the proteins. The 3D structure analysis and energy minimization was done using Swiss-PdbViewer. In-Silico analysis suggested that T170M and R318C variants of MECP2gene can cause alteration in the protein structure and function. Screening of these variants may be useful in disease molecular diagnosis.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research