In sheep, genetic susceptibility to classical scrapie (CS) is supported by polymorphic variations at codons 136, 154 and 171 of the PRNP gene, which encodes the normal cellular protein prion (PrPC) [ 1].
The union of these two queries will provide a list of specific codons and residues that are positively and/or negatively associated with variation at codon 242.
The synonymous TGC>TGT variation at codon 35-Cys (rs4586) was the only tag SNP in CCL2 obtained by aggressive tagging a minor allele frequency (MAF) of 0.15, a pairwise correlation coefficient r2 of 0.80.
The intervals were slightly higher for codon position 3 (0.077, 1.196), and indicated considerable rate variation at codon position 2 (0.209, 2.330).
This suggests that some ancient haplotypes carrying the coding variation at codon 93 have persisted in geographically dispersed hunter-gatherer populations.
These three genes were delimited by variation at codon 180: TCT (serine), GCT (alanine), and CCT (proline), and by unique intron II and intron V mutations.
Involvement of the mdr1 gene in chloroquine resistance has been challenged, but variation at codon 86 of this gene modulates resistance to chloroquine (10 ).
14 An A/G variation at codon 107 defines HLA-E*0101 HLA-E*01010103 (http://hlandlleles.org/data/txt/e_nuc.txt), HLA-E*0103 HLA-E*0103ine at position 107 in httpE*0101 (HLA-E107R) being replaced by a glycine in HLA-E*0103 (HLA-E107G).
Polymorphic variation at codon 2347 was not present in >13,000 RYR1 alleles reported on the exome variant server (http://evs.gs.washington.edu/EVS), but the c.7043delGAG deletion was previously described, in the heterozygous state, in affected members (total 5 cases) of two unrelated families that presented with malignant hyperthermia [ 16].
Most variations were missense and were located at classical hotspot codons, except for one specific mutation at codon 259 (p.D259N) that was found in six samples.
