Skip to main content
. 2020 Jun 9;10(8):2741–2751. doi: 10.1534/g3.120.401407

Table 2. CLN6 variants (transcript ENSFCAT00000025909) in cat whole genome sequences – 99 Livesa.

Chr:Pos Ref/Alt Allele Counts # Alleles Allele Freq. # Het # Homo Effect Coding Change Protein Change
B3:39320853 C/G 33 390 0.085 27 3 missense c.71C > G p.Ser24Cys
B3:39327181 G/A 49 390 0.126 23 13 missense c.118G > A p.Gly40Ser
B3:39331723 C/T 175 390 0.449 81 47 splice region c.202-6C > T ———
B3:39331755 G/A 11 390 0.028 9 1 synonymous c.228G > A p.Pro76=
B3:39331770 C/T 1 390 0.003 1 0 synonymous c.243C > T p.Ser81=
B3:39331773 G/T 1 390 0.003 1 0 synonymous c.246G > T p.Val82=
B3:39331797 C/T 1 390 0.003 1 0 synonymous c.270C > T p.Tyr90=
B3:39331801 A/G 2 390 0.005 2 0 missense c.274A > G p.Ile92Val
B3:39331815 C/T 2 390 0.005 2 0 synonymous c.288C > T p.Phe96=
B3:39331818 T/C 2 390 0.005 2 0 synonymous c.291T > C p.Leu97=
B3:39332915 G/C 1 390 0.003 1 0 missense c.339G > C p.Met113Ile
B3:39332917 T/C 1 390 0.003 1 0 missense c.341T > C p.Ile114Thr
B3:39332918 C/G 1 390 0.003 1 0 missense c.342C > G p.Ile114Met
B3:39332935 C/T 1 390 0.003 1 0 missense c.359C > T p.Thr120Ile
B3:39332940 G/A 1 390 0.003 1 0 missense c.364G > A p.Val122Ile
B3:39336061 A/C 2 390 0.005 2 0 missense c.794A > C p.Tyr265Ser
a

Data from 99 Lives Cat whole genome sequences annotated with Ensembl 97 (Jaffey et al. 2019).