Research Article
Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss
Table 2
Identified pathogenic variants in the MYO15A gene in this study and their prediction results by computer algorithms.
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aDC: disease causing; PO: polymorphism. bThe PROVEAN scores indicated deleterious and neutral function, respectively, with a cut-off score set at -2.5. Variants with a score equal to or below -2.5 are considered “deleterious”; variants with a score above -2.5 are considered “neutral.” cThe PolyPhen-2 score ranges from 0.0 to 1.0. Variants with scores of 0.0 are predicted to be benign. Values closer to 1.0 are more confidently predicted to be deleterious. The score can be interpreted as follows: 0.0 to 0.15: benign; 0.15 to 1.0: possibly damaging; 0.85 to 1.0: probably damaging. |