Therefore, we searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (updated on Jan, 8th, 2015, with synonymous and HVS mutations removed, 568 mutations in total) to identify mutations that may lead to radical changes in RNA or protein function.
We searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (568 pathogenic mutations in total, updated on Jan, 8th, 2015, with synonymous and HVS mutations removed)35 to identify mutations that lead to radical changes in RNA or protein function.
BSCR is strongly associated with human leukocyte antigen HLA-A29, one of the 21 serologically defined variants of HLA-A gene [9], and FSHD is an autosomal dominant inherited myopathy that is associated in more than 95% of cases with a low number of 3.3-kb tandem repeat units, termed D4Z4, located on chromosome 4q35 [17].
We identified a three amino-acids deletion and two sites (one in the WPP domain and one in the LRR domain) that should help to define variants of interest.
The defining variants of these highlander-specific lineages may have played a role in the adaptation of all the individuals carrying them.
They contain the description of a defined variant, the physicochemical properties of the original residue and that of the missense, the BLOSUM score for the amino acid change, the conservation of the residue across various species, the regions, domains, or sites annotated in its vicinity (Fig. 3).
We defined variant accuracy (VA) as the percentage of homoplasmic and heteroplasmic variant calls by Sanger that were concordant with 454 vs. total number of variants found by both technologies; we calculated variant accuracy as VA = (B2 + C3) / (A2 + A3 + B2 + B3 + C2 + C3).
We also define a variant of the source location problem and give an approximation algorithm for it.
For this purpose we need to define a variant of the Lipschitz space.
First, we define a variant of the Bellman operator over any function f as B τ f ( s ) = max μ { g ( s, μ ) + τ E [ f ( s + ) ] } (24).
