Figure 3. Mutations identified in LH affected with canine multifocal retinopathy 3 (cmr3). A C1388del/Pro463fs mutation (A, boxed) and linked G1466T/Gly489Val nucleotide substitution (B, boxed) were identified in canine bestrophin 1 (cBEST1) exon 10 of cmr3-affected Lapponian herder (LH). Wild-type sequence and resulting amino acids are identified on top (codons are separated by dotted lines), while the mutations and resulting amino acid changes are noted on the bottom. Note that the Gly489Val substitution leads to a stop codon within the Pro463fs altered reading frame. The carrier sequence in the middle is heterozygous for both changes. WT=wild type, C=carrier, A=cmr3 affected. C: Conservation of the nucleotide sequence between species. D: Comparison of partial bestrophin exon 10, amino acid 436 to 507 between different species demonstrates the conservation of identified variants. Positions 438, 440, 463, 473, 489, and 505 are highlighted in red. Dog=Canis familiaris, Cow=Bos taurus, Pig=Sus scrofa, Human=Homo sapiens, Chimp=Pan troglodytes, Macaca=Macaca fascicularis. “.”=position identical to Dog.