Exact(1)
In our screening of GNB1L for potentially damaging sequence variants we found an association of rare potentially damaging nonsynonimous variants and ASD.
Similar(59)
In addition to the obvious short- and long-term effects of neuroglycopenia, the brain is also vulnerable to systemic inflammation because cytokines from the circulation can potentially enter the brain, activate the microglia (the representatives of macrophages in the central nervous system), and activate a damaging, neurotoxic sequence of events (14).
PolyPhen 2 (PPh2) [ 35] assigns to nonsynonymous SNPs a probability of being damaging based on the sequence, phylogenetic and structural information characterizing the amino acid substitution.
PolyPhen-2 predicts variants as 'benign', 'possibly damaging', or 'probably damaging' based on eight sequence-based and three structure-based predictive features [ 35].
Indeed, there is a nongradual process of molecular evolution at the origin of such composite genes, because both genetic fission and genetic fusion differ from punctual mutations, and may be responsible of larger, potentially more damaging changes in the sequences.
The damaging effect of the missing sequence is supported by visual inspection of the corresponding domain structures.
In fact, a complex, long-lasting series of damaging earthquakes (the "Canterbury earthquake sequence") with extremely high ground motions [ 9- 11] struck Christchurch and the Canterbury Region of New Zealand's South Island over a 2-year period during the tenure of this study, claiming scores of lives [ 12].
Phase I filters eliminate all the siRNA sequences containing the damaging elements for a functional siRNA.
Upon direct sequencing, 13 different damaging mutations were identified, 6 in BRCA1 (four frameshift, one nonsense, one missense) and 7 frameshift in BRCA2 (Table 2).
In silico analysis by SIFT (sift.jcvi.org) indicated that substitution at position 151 from E to K was predicted to be DAMAGING with a score of 0.00 (median sequence information: 2.72, No. of sequences represented: 116).
Under tensile loading the transition from low to high load cycles in a two-block loading was more damaging than the high to low sequence.
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