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Despite the mCSM in silico analysis of p.V736A variant, it can be predicted that it may affect the protein structure stability, which may lead to its misfolding.This variant is more likely to be benign (allele frequency in the general population is high, at 0.57).
Despite the mCSM in silico analysis of p.V736A variant, it can be predicted that it may affect the protein structure stability, which may lead to its misfolding. These mutations are located in the catalytic domain of the protein and can affect the enzymatic activity or substrate binding capacity of the protein. This variant is more likely to be benign (allele frequency in the general population is high, at 0.57). This is consistent with what Kloss-Brandstatter et al. observed, ‘‘V736A produced a conservative amino acid exchange, which was concordantly predicted to be benign.”
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