Table 2.

Dystonia mutations.

DOI: http://dx.doi.org/10.7554/eLife.17983.012

Protein	Mutation	Structural consequence	Reference
TorsinA	∆E302/303	Weakened LAP1/LULL1 binding	(Ozelius et al., 1997)
TorsinA	∆F323-Y328	Weakened LAP1/LULL1 binding	(Leung et al., 2001)
TorsinA	R288Q	Weakened LAP1/LULL1 binding	(Zirn et al., 2008)
TorsinA	F205I	Folding problem	(Calakos et al., 2010)
TorsinA	D194V	Change to the conserved, noncatalytic interface	(Cheng et al., 2014)
TorsinA	∆A14-P15	Improper cellular targeting	(Vulinovic et al., 2014)
TorsinA	E121K	Charge inversion at the membrane proximal interface	(Vulinovic et al., 2014)
TorsinA	V129I	Folding problem	(Dobričić et al., 2015)
TorsinA	D216H (modifier)	Surface change; consequence unclear	(Kamm et al., 2008; Kock et al., 2006)
LAP1	c.186deiG (p.E62fsTer25)	Lack of the luminal activation domain of LAP1	(Kayman-Kurekci et al., 2014)
LAP1	E482A*	Improper folding	(Dorboz et al., 2014)

*Assesment based on the equivalent residue in LULL1 (E368).