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Males with one COL4A5 mutation are predicted to be affected with AS while women with one mutation are carriers and may or may not develop symptoms.
The resulting frame shift and nonsense mutation are predicted to stop translation half way into the reading frame to result in a hypomorphic allele.
The two characterized variants of citrate synthase with an additional gltA2 mutation are predicted to reorient histidine-110 back toward the wild-type conformation.
The present results should be regarded as an approximation, because the following types of mutation are predicted to escape detection by the screening strategy used: mutations in noncoding regions; missense mutations within BRCA1 exon 11 and BRCA2 exons 10 and 11; large gene deletions; and mutations within the first and last 180 nucleotides of the amplicons analyzed by PTT.
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The p.Gly375Asp mutation is predicted to be damaging by prediction programs (Polyphen‐2: probably damaging [1], SIFT: damaging [0], MutationTaster: disease causing [1]).
The mutation was predicted to be damaging by at least 5 in silico predictors.
Interestingly, BRAF V600E mutation was predicted to form a neoantigen when presented by HLA-A0301 or HLA-A1101 HLA-A1101
Among them, the W51F mutation is predicted to be the most effective in increasing the oxidation potential of the protein.
This missense mutation was predicted to be pathogenic according to the in silico programs SIFT: 0, Polyphen-2: 0.883, and MutationTaster: 0.97471.
In addition, the mutation is predicted to cause an alteration in the second structure, which impairs protein synthesis and enlarges sensitivity to aminoglycoside ototoxicity (Prezant et al., 1993).
p.R149C (g.940C>T) mutation is predicted to destabilize the protein in both models.
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