13023_2016_436_MOESM1_ESM.jpg (499.19 kB)
Additional file 1: Figure S1. of Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
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posted on 2016-05-04, 05:00 authored by Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Laurence Colleaux, Vincent CantagrelModeling of the p.S58L mutation using the crystal structure of the motor domain of human KIF1A (PDB number 1VFV). The image was generated using PyMOL ( http://www.pymol.org ). The side-chain of Ser58 is involved in inferred hydrogen bonds (arrow) with other amino-acids located in the ATP-binding pocket (A). These interactions are predicted to be disrupted by the mutation (B) including the hydrogen bonds with the highly conserved Arginine 11 that interacts with ATP through a molecule of water. (JPG 499 kb)
