Table 2. High impact singletons in intolerant orthologs for unrelated cats with disease traits.
SNV locationa | Ref/Alt | Consequence | Gene symbol | pLI | Individual ID | Disease | Status |
---|---|---|---|---|---|---|---|
chrA1:116653102 | G/A | Stop gained | FAM13B | 0.92 | felCat.Fcat19194.Pudge | Ectodermal dysplasiab | Affected |
chrA1:192824838 | G/A | Stop gained | CYFIP2 | 1.00 | felCat.Fcat20406.Gannon | Stones | Affected |
chrB1:77305060 | C/T | Stop gained | FBXW7 | 1.00 | felCat.Fcat5012.Coloradoc | Lymphoma | Carrier |
chrD2:63980875 | G/A | Stop gained | SH3PXD2A | 1.00 | felCat.CR1397.Isabella | Infectious peritonitisd | Affected |
a SNV locations were only reported if they were supported by NCBI annotations.
b A second unrelated cat, felCat.Fcat19197.Kooki, was also affected.
c Affected offspring removed earlier from analysis inherited the same SNV.
d A second unrelated cat, felCat.CR1219.Tamborine, was also affected.