Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

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Figure 3.
Figure 3.

Ala255Val is a mutation in the protein motor area of KIF1A. (A) Schematic representation of the KIF1A gene, the exons that encode the motor domain (green), and the location of the mutation. (B) A 3D model of KIF1A motor domain. Ala 255 is highlighted. The nucleotide binding pocket (NBP) and the magnesium stabilizer are found in close proximity to the mutation. (C) The amino acid sequence of KIF1A homologs in the vicinity of Ala255 (yellow). Positions that are labeled with a star are fully conserved between human to fungi.

This Article

  1. Published in Advance April 12, 2011, doi: 10.1101/gr.117143.110 Genome Res. 21: 658-664

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