Supplementary Figure 4: Multiple-sequence alignments at sites with novel pathogenic missense mutations in the known PME genes. | Nature Genetics

Supplementary Figure 4: Multiple-sequence alignments at sites with novel pathogenic missense mutations in the known PME genes.

From: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Supplementary Figure 4

The novel mutations in (a) NEU1, (b) NHLRC1, (c) EPM2A, (d) CLN6 and (e) AFG3L2 identified in this study are presented above the alignments. Previously reported disease-associated missense mutations obtained from the literature are shown below the alignments. Gene homologs and amino acid sequences were obtained from NCBI HomoloGene. Alignments were performed using ClustalX2. Asterisks, colons and periods indicate positions with fully conserved, strongly similar and weakly similar residues, respectively. ClustalX default coloring was used to group amino acids with similar properties. The domain structure of AFG3L2 (ref. 3) is also presented (bottom in e). Mutation references are as follows. NEU1: R294S4; A298V5,6; R305C7; and P316S8. NHLRC1: L279P9 and E280K10. EPM2A: T187A11; A188G12; T194I13,14; and E210K9. CLN6: L169P15 and Y172del16. AFG3L2: Y616C17; N432T, S674H, E691K, A694E and R702Q3; T654I, M666R, M666T, M666V, G671R and G671E18; Y689H19; and E700K20.

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