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