Fascination About thr777
Fascination About thr777
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The amount of variants in ClinVar that happen to be contained in just this gene, that has a link to watch the list of variants.
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Aberrant five' splice web sites in human disease genes: mutation pattern, nucleotide construction and comparison of computational instruments that predict their utilization.
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This sequence improve has an effect on codon 777 of the GAA mRNA. It is a 'silent' change, meaning that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be part of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been noted within the literature in people affected with GAA-connected situations.
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