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RYR1 mutational spectrum linked with CCD includes more than 200 described mutations mostly heterozygous dominant missense mutations and minor deletions or duplications.
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Both major mutations that affect whole genes and minor mutations that affect individual characteristics of genes are possible.
AGXT gene sequencing demonstrated compound heterozygosis for S81L and G170R mutations (on major and minor haplotype, respectively).
Intracellular Ca2+ transients resulting from activation of RyR1 by the DHPR are very little affected by the β1a heptad repeat mutation, and these minor changes do not influence spontaneous muscle activity.
In this study, we compared DNA, RNA, and protein data among basal-like tumors with and without BRCA1 mutations and observed that minor molecular features exist.
This technology permits the interrogation of genetic alterations including mutations and insertions/deletions, even minor alleles in complex samples, in suboptimal specimens including formalin-fixed paraffin-embedded tissues.
Thus, study of genetic defects in human cancers has revealed for each cancer a few major causative genetic events (driving mutations) and myriads of minor events, peculiar for each cancer.
Since the differentiated cancer cells have a high proliferation rate and express higher levels of proliferation related markers compared to the CSCs [ 22] they would generate a far larger number of mutations, and with a minor or absent degree of shared mutations.
Drug resistance mutations were called with Stanford DB database (hivdb.stanford.edu) and grouped into major and minor mutations as assigned by this on-line tool [ 36].
Among the 79 IGHV pseudogenes, 26 were inactivated by point mutations or other minor changes, and 53 which are about twice of those caused by point and minor mutations were caused by major structural changes with the majority by truncations.
The aim of the present work is focused on two objectives: to study the mutations responsible for the drug resistance using Stanford database and how the existing ART drugs are resistant to subtype d (wild type, major and minor mutations) using docking studies.
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