Table 2.

Identified pathogenic variants in the MYO15A gene in this study and their prediction results by computer algorithms.

Nucleotide change	Type of variation	Gene subregion	Amino acid change	MutationTastera	PROVEANb	PolyPhen-2c	Novelty
c.2802_2812del	Truncation	Exon 2	p.Gln937Leufs∗39	DC	Deleterious (score -65.157)	—	Novel
c.5681T>C	Missense	Exon 24	p.Leu1894Pro	DC	Deleterious (score -6.817)	Probably damaging (score 0.988)	Novel
c.6340G>A	Missense	Exon 30	p.Val2114Met	DC	Deleterious (score -2.696)	Probably damaging (score 0.982)	[15, 16]

^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.