Table 2 of Zangerl, Mol Vis 2010; 16:2791-2804.

Table 2. Observed genomic variation in the cBEST1 gene.

Number CFA18 bp Gene position Variation Consequence Observed in Reference
1 57507965 Exon 2 G>A silent Karelian beardog (KBD) [24]
2 58507851 Intron 2 C>T non-coding Lapponian herder BICF2P2990432
3 57506423 Intron 3 C>T non-coding three or more breeds [24]
4 57506082 Exon 4 C>A silent three or more breeds [24]
5 57505871 Intron 4 G>A non-coding Swedish vallhund (SV) [24]
6 57505579 Intron 4 A>G non-coding Kuvasz [24]
7 57505571 Intron 4 A>G non-coding KBD, SV BICF2G6306892812
8 57505345 Intron 5 C>T non-coding Kuvasz [24]
9 57505321 Intron 5 T>C non-coding Kuvasz [24]
10 57505315 Intron 5 C>A non-coding Kuvasz [24]
11 57504881 Intron 5 C>G non-coding Swedish vallhund [24]
12 57504859 Intron 5 A>G non-coding KBD, SV NCBI ss250608388
13 57504620 Intron 6 G>A non-coding three or more breeds BICF2G6306892832
14 57504059 Intron 6 T>A non-coding Swedish vallhund BICF2G6306892862
15 57503846 Exon 7 G>A silent three or more breeds BICF2G6306892872
16 57503789 Intron 7 A>G non-coding three or more breeds BICF2G6306892882
17 57502488 Intron 7 A>G non-coding Swedish vallhund BICFPJ14562051
18 57502387 Exon 8 T>C silent Karelian beardog NCBI ss250608389
19 57502384 Exon 8 T>C silent KBD, SV BICFPJ14562061
20 57500034 Exon 10 A>G Lys438Arg Bernese mountain dog NCBI ss250608394
21 57500028 Exon 10 G>T Trp440Leu Norfolk terrier NCBI ss250608395
22 57500027 Exon 10 G>T Trp440Cys Bernese mountain dog NCBI ss250608396
23 57499959 Exon 10 C>del Pro463fs Lapponian herder NCBIss250608397
24 57499929 Exon 10 T>G Val473Gly Bernese mountain dog NCBI ss250608398
25 57499881 Exon 10 G>T Gly489Val Lapponian herder NCBIss250608399
26 57499834 Exon 10 A>T Thr505Ser Jämthund NCBI ss250608400
27 57449754 Exon 10 C>T silent three or more breeds NCBI ss250608401
28 57498425 3′UTR A>T non-coding Swedish vallhund [24]

The majority of polymorphisms identified had previously been reported. Three new polymorphisms (row #12, 18, and 27), however, were observed in addition to seven coding changes in exon 10 (row #20–26); two of these segregate with retinal disease in the Lapponian herder breed (row #23 and 25, bold,cmr3). *CFA18=Canis familiaris chromosome 18. 1Based on CanFam1;2Based on Can Fam2.

Zangerl, Mol Vis 2010; 16:2791-2804. http://www.molvis.org/molvis/v16/a299

©2010 Molecular Vision http://www.molvis.org/molvis/

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