File:Awv352f2p (1).jpg

English: SCN4A mutations in congenital myopathy patients. Location of the mutations mapped onto a secondary structure of Na v 1.4 channel ( A ). Compound heterozygous mutations identified in the affected individuals from one family are presented with the same colour. The homozygous mutation in Family 5 is shown underlined. Position, amino acid change, mutation type, frequency in ExAC database and association with sodium channelopathy of the reported mutations ( B ). Full loss-of-function mutations are presented in red. MS = missense mutation; NS = nonsense mutation; FS = frameshift mutation; ESS = essential splice site mutation; HypoPP = hypokalaemic periodic paralysis; NDM = non-dystrophic myotonia; - = not available.