Ovine NCL CLN5


No. of disease causing mutations: 1

Identifier Nucleotide change Mutation Amino acid change/  Predicted consequence Location Restriction site change Reference
ocln5.001 c.571+1G>A Splicing site Excision of exon 3 in transcript, frameshift and truncated protein of 125 amino acids Intron 3
Frugier et al. 2008. Neurobiol. Dis 29: 306-315