Computational protocol: Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

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Protocol publication

[…] Bioinformatics analysis were performed using the I-Mutant 2.0 (available online: http://folding.uib.es/i-mutant/i-mutant2.0.html) and the MUpro (available online: http://mupro.proteomics.ics.uci.edu/) in order to check the effect of new mutations on ASM stability in the SMPD1 gene. […]

Pipeline specifications

Software tools I-Mutant, MUpro
Application Protein structure analysis
Organisms Homo sapiens
Diseases Niemann-Pick Diseases, Lysosomal Storage Diseases