Given the chromosomal position of variants, we designed PCR primers to amplify fragments harboring individual variants by Primer3 [ 36].
Position of variants in the array is fixed, regardless of alterations in the core repeat copy number.
Given the position of variants, the PCR primers were designed to encompass the candidate position, ensuring that common SNPs are not covered by the primers.
For exon 4, the position of variants from each subclade within the array is strikingly similar in the three species, as shown in Figure 5B.
CTCF has also been proposed to regulate the positioning of variant histones, such as H2A.Z [ 6, 14].
Fixed position of the variant 2* and truncation of variants indicate that arrays may be modified by consecutive deletions in the preexisting ancestral array.
FAP is caused by germline APC variants and the position of the variant explains some of the variation in polyp numbers.
This ratio, however, was obtained from the cumulative analysis of all α-globin chain variants, and the relative position of the variant amino acid in the α-globin chain or the relative stability of the variant Hb was not taken into account.
Furthermore, the arginine residue at position 56 of variant 1 (R56, Additional file 1: Figure S5A) is necessary for the repair of base damage in duplex DNA [ 100].
