A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis

Figure 4

(a) Partial amino acid sequences of CLN6 from a number of species showing uniqueness of the p.W277R mutation in the affected Australian Shepherd. (b) Partial amino acid sequence of human CLN6 showing missense mutation sites (shaded: p.M241T¹; p.R252H²; pG259C³; p.P299L⁵; p.W300R⁶) that result in human vLINCL and the amino acid corresponding to the Australian Shepherd mutation (underlined: p.W277R⁴).

(a)

(b)