Table 2 Single nucleotide polymorphisms identified in the CLCN1 gene full coding sequence of non-myotonic and myotonic swine when compared to the reference sequence (XM_021078561.1).
From: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
Animal type | SNP | Amino acid change |
|---|---|---|
Non-myotonic (Two control animals [C1]) | c. 1077 T>Y | synonymous |
c. 1422 T>C | synonymous | |
c. 1697 T>Y | synonymous | |
Myotonic (A and B) | c. 225 C>A | synonymous |
c. 226 A>G | Non-synonymous Met > Val | |
c. 978 A>T | synonymous | |
c. 1077 T>C | synonymous | |
c. 1224 G>A | synonymous | |
c. 1422 T>C | synonymous | |
c. 1524 C>T | synonymous | |
c. 2436 G>C | synonymous | |
c. 2759 C>T | Non-synonymous Ala > Val | |
c. 2802 A>G | synonymous | |
c. 2826 G>A | synonymous | |
c. 2964 A>G | synonymous |
