Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India
Figure 2
Superimposed native structures (blue) and mutant structure (brown) of the α subunit produced using Accelrys Discovery Studio software from top left clockwise:
a) mutation p.E114K causes conformational change, b) p.R170W disrupts the beta sheet c) p.D322N affects the active catalytic site, d) p.R393P causes conformational change, e) p.E462V affects the active site and the dimerization of alpha-beta subunits, f) p.G478R disrupts the alpha helix.