Computational protocol: PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

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Protocol publication

[…] Phylogenetic conservation of the missense mutation was analyzed by aligning the amino acid sequences from several species (retrieved from the Entrez protein database in the NCBI database) using the ClustalX 2.012 program .In silico prediction of the putative functional effects of the missense mutations was conducted with the PMut (http://mmb2.pcb.ub.es:8080/PMut/) , Polyphen2 (http://tiddlyspace.com/bags/icgc_public/tiddlers/PolyPhen2) and SIFT (http://sift.jcvi.org) software . […]

Pipeline specifications

Software tools Clustal W, PolyPhen, SIFT
Application Phylogenetics
Organisms Homo sapiens