Table 2. Four non-synonymous variants in the critical interval of an HNPK affected Labrador Retriever with respect to the Boxer reference genome (CanFam 3.1).
Position on CFA 2 | Reference allele | Variant allele | Gene | Variant (cDNA) | Variant (protein) |
21,098,589 | A | G | ITGA8 | c.362A>G | p.K121R |
21,584,989 | C | - | NMT2 | c.254delCa) | frameshifta) |
21,612,666 | T | C | RPP38 | c.380A>G | p.E127G |
21,731,842 | A | C | SUV39H2 | c.972T>G | p.N324K |
Subsequent analyses of the original Sanger reads from the dog genome project revealed that this is not a true variant, but rather an error in the reference genome assembly (data not shown).