For HLA-II, seventeen epitopes in the reference at percentile value from 0.22 to 4.76, while in variant from 0.22 to 4.96.
Mild alterations were observed in variants derived from mutations located in the tightly packed C-terminal α-domain.
Eleven IRES mutations were detected exclusively in variants amplified from PBMC (U104C, A109C, A142G, 146Gdel, G188U, 206Ains, A233G, A243G, A244G, G261U, and G271U), whereas three were identified only in serum (C104U, G107A, and C121U).
MIR cell wall spectral peaks are also more readily interpreted than NIR spectral peaks [ 10], which allowed downstream interpretation of cell wall chemistry in variants identified from the high-throughput screen, but is beyond the scope of this publication.
The biotin-binding pocket is conserved in BirA variants from different organisms and is lined with residues from L4 (G68, G68 and W74) and β7 (G154 and G156).
The relative importance of these two major evolutionary players, genetic code and conservation of physico-chemical properties, was quantified previously in protein variants from one and the same species and for closely related proteins [10].
We obtain and curate the data (see methods) resulting in 985,790 variants from 478 individuals.
In parallel, variants from an exome are annotated and the frequency and predicted pathogenicity are evaluated.
Domains were deleted or truncated in transcript variants from 7,641 poly(A) sites from 4,142 genes (Tables 1 and Additional file 5).
However, for other disorders, with higher frequency and/or lower penetrance, even more caution must be used in interpreting variants from the 1kGP and ESP5400 cohorts.
