Canine ATP13A2

Tibetan Terrier

No. of disease causing mutations: 1

Identifier Nucleotide change Mutation Amino acid change/  Predicted consequence Location Restriction site change Reference
datp13a2.001 c.1620delG (also called c.1623delG) 1-b deletion

skipping of exon 16 leading to shortened protein (previously thought to cause p.P541fsX597)

exon 16 BglI

Farias et al. 2011 Neurobiol Dis 42:468-474

Wohlke et al. 2011 PLoS Genetics 7: e1002304

 

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