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. Author manuscript; available in PMC: 2014 Mar 13.
Published in final edited form as: Dev Cell. 2012 Jun 21;23(1):181–192. doi: 10.1016/j.devcel.2012.05.006

Table 1. Compiled Data for Patient Mutations.

Left, Mutations in the N-terminal DC domains are listed in the first column, followed by a column reporting their origin (familial, sporadic, or both), a column reporting the relative slope of the linearly-increasing portion of the response curve (normalized to the slope of the 13-pf wild-type curve, Fig. 2D, blue), and a column reporting whether they bind preferentially to 13-pf microtubules (+ = yes, − = no). Right, Mutations in the C-terminal DC domains are listed, followed by the same columns described above. See also Figure S4.

Mutation N-DC Origin Relative Slope 13-pf? Mutation C-DC Origin Relative Slope 13-pf?
S47R Familial 0.43 + R178L Familial 0.22
Y64N Sporadic 0.12 + P191R Sporadic 0.46
A71S Familial 0.14 R192W Familial 0.33 +
R76S Familial 0.38 N200K Sporadic 0.58
R78H Sporadic 0.11 T203R Both 0.18
D86H Familial 0.37 + T222I Sporadic 0.21
R89G Familial 0.33 G223E Sporadic 0.03
R102S Unknown 0.23