Computational protocol: Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

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Protocol publication

[…] The possible impact of amino acid substitution on the structure and function of human proteins was estimated with in silico prediction of protein function with the following tools: SIFT (http://sift.jcvi.org/) and PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/). To estimate the importance of the novel mutations, Vertebrate MultiZ Alignment and Conservation of the region surrounding each affected residue were obtained from the UCSC genome browser (http://genome.ucsc.edu/). The reference sequences used for MYBPC1 gene with these tools were ENSP00000354849 or ENST00000361466 (Ensembl). […]

Pipeline specifications

Software tools SIFT, PolyPhen
Databases UCSC Genome Browser
Application Genome data visualization
Organisms Homo sapiens
Diseases Arthrogryposis, Muscular Diseases, Genetic Diseases, Inborn