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. 2015 Jul 14;12(4):874–886. doi: 10.1007/s13311-015-0368-4

Table 4.

In silico analysis of the functional effect of the predicted changes resulting from PTC readthrough. The PTCs: UAG and UAA have been described to miscode to Glutamine (Gln) when readthrough occurs although UGA has been described to miscode to Tryptophan [23]

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In silico predictions were performed using Polyphen-2 and SIFT. Patients responsive to gentamicin treatment are indicated in gray

ND = nondetectable

*Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/) predicts the possible impact of amino acid substitutions on the stability and function of human proteins using structural and comparative evolutionary considerations. Score ranges from 0 (benign) to 1 (damaging)

†SIFT (http://sift.jcvi.org/) prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences. Score ranges from 0 (damaging) to 1 (tolerated)