link alternatif thr777 - An Overview
link alternatif thr777 - An Overview
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Remark: This sequence adjust affects codon 777 of the GAA mRNA. It's really a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported within the literature in individuals influenced with GAA-associated ailments.
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The ailment to the classification, furnished by the submitter for this submitted (SCV) record. This column also involves the afflicted status and allele origin of individuals observed using this variant.
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This sequence adjust influences codon 777 on the GAA mRNA. It is just a 'silent' transform, indicating that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Section of the consensus splice internet site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported during the literature in people today influenced with GAA-connected circumstances.
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