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Polyphen-2 sorted all 13 of these variants as damaged.
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Both SIFT and Polyphen2 predict this variant as damaging.
As shown in Fig. 3D, the proline residue at this position is conserved in all species, and both SIFT and Polyphen2 predict this variant as damaging.
Excluding double counts, we can summarize 21 variants as potentially damaging.
Based solely on PolyPhen-2, SIFT, and LOFTEE analyses (excluding double counts), we can summarize 21 variants as potentially damaging.
Furthermore, 13 variants were sorted as benign and four were sorted as damaged by Polyphen-2.
Premature activation of the Cdk1/Cdc5/Mus81 pathway, achieved here with phosphomimetic Mms4 variants as well as in S-phase checkpoint-deficient genetic backgrounds, induces crossover-associated chromosome translocations and precocious processing of damage-bypass SCJ intermediates.
Both SIFT and Polyphen2 predict this variant as probably damaging.
Sift, Polyphen2 and Fathmm consider a variant as putatively damaging when it presents a score ≤0.05, ≥0.957 and < −1.5, respectively.
In silico prediction of the putative functional effect was carried out with the programs PolyPhen-2, Provean and SIFT, all of which indicated as damaging the variant p.8Glu > Val in NDUFB6, whereas conflicting results arose for the p. 81Arg > Gln in NDUFB12 (Table 1 and Additional file 1: Table S2).
Variants predicted to have a neutral effect but demonstrated to be deleterious in the validation study were classified as damaging.
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