2 Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction 21 Figure 1. Alignment of zebrafish Ctns protein and human cystinosin. (a) Amino-acid sequence alignment of the zebrafish Ctns protein and human cystinosin. The site of the genetic zebrafish model truncating mutation (c.706C>T; p.Q236X) is marked in red. Identical amino-acids are denoted by asterisks and similar amino acids by double dots. The seven transmembrane domains are highlighted in grey and the two lysosomal targeting motifs in black. (b) Exon 8 of the zebrafish ctns gene showing the wild-type (wt), the heterozygous (het) and the homozygous (hom)sequences for the c.706C>T mutation. Typical base sequence is marked above each electrophoretogram, while altered sequence is marked below.
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