Fig. 3
From: A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
DNA sequencing results of a case, obligate carrier and control. The mutation in the gene B3GALNT2 that causes hydrocephalus in Friesian horses. Fragments comprising exon 12 of the gene from an affected foetus (= case), an obligate carrier and a control horse were amplified by PCR and analysed by Sanger DNA sequencing. The C>T mutation (arrow) changes the codon CAG for glutamine into a premature TAG stop codon, truncating the encoded protein by 26 amino acids. The nomenclature for the mutation is c.1423C>T [GenBank:XM_001491545] corresponding to p.Gln475* [GenBank:XP_001491595]