Computational protocol: Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

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Protocol publication

[…] Models of the complexes of wild-type and mutant MED25 with Abl and Lck were generated by homology modelling using previously published complexes of the respective SH3 domains with proline-rich ligands as templates [, ]. Proper alignment of the ligand sequences in complex with the SH3 domains was derived using the iSPOT server []. Models were generated using SwissModel [] and the quality was verified by PROCHECK [] and WHAT_CHECK [] analyses. Visualization of the structures was performed using MolMol [] and DS Viewer (Accelrys Inc.). […]

Pipeline specifications

Software tools PROCHECK, WHAT_CHECK, MOLMOL
Application Protein structure analysis
Organisms Mus musculus, Rattus norvegicus, Homo sapiens, Saccharomyces cerevisiae
Diseases Charcot-Marie-Tooth Disease, Nervous System Diseases, Peripheral Nervous System Diseases, Genetic Diseases, Inborn
Chemicals Amino Acids