How link alternatif thr777 can Save You Time, Stress, and Money.
How link alternatif thr777 can Save You Time, Stress, and Money.
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the effect of sequence variations on RNA splicing propose that this variant may possibly make or improve a splice site. In summary, the available proof is at this time insufficient to ascertain the position of the variant in ailment. Thus, it has been labeled as being a Variant of Uncertain Importance. (significantly less)
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Aberrant 5' splice web pages in human ailment genes: mutation sample, nucleotide construction and comparison of computational applications that forecast their utilization.
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This sequence alter affects codon 777 of the GAA mRNA. It is a 'silent' change, that means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, that is 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 claimed from the literature in men and women impacted with GAA-related ailments.
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