Supplementary Figure 5: Multiple-sequence alignments at sites with probably pathogenic missense mutations in SACS and TBC1D24.
From: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
The mutations identified in (a) SACS and (b) TBC1D24 in this study are presented above the alignments. Previously reported disease-associated missense mutations obtained from the literature are presented below the alignments. Gene homologs and amino acid sequences were obtained and alignments were performed as described in Supplementary Figure 4. The domain structure of TBC1D24 (ref. 21) is presented in b. Mutation references are as follows. SACS: T458I22,23; R474C22; C991R and P2798Q24; and V995F23. TBC1D24: Q20E, R40C, R40L, G110C, R242C and L333F25; D70Y and R293P21; D147H and A515V26; F229C27; and F251L28.
