Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Table 2 Characteristics of the novel MYO15A mutations detected in this study

Family	Genomic positions (Hg19)	Nucleotide change	Amino acid change	Location	Domain	Controls	Evolutionary conservation	*In silico analysis*
								SIFT¹	PolypPhen-2²	MUpro³
Pathologic variant
SR-903	Chr17:18035881	c.4320 + 1G	IVS11 + 1	Intron	Motor	0/409	Yes	-	-	-
SR-903	Chr17:18049349	c.G6437A	p.R2146Q	Exon 29	MyTH4	0/409	Yes	0	0.99	-0.743
Variants with uncertain pathogenicity
SR-285	Chr17:18049394	c.C6482T	p.S2161F	Exon 29	MyTH4	0/409	Yes	0	1	-0.543

¹ For SIFT, prediction of a change being deleterious (<0.05) or tolerated.
² For PolyPhen-2, prediction of a change being deleterious (>0.85), possibly deleterious (0.15–0.85) or benign (<0.15).
³ For MUpro, prediction of a change that decreases protein stability (score <0) or increases protein stability (score >0), with a confidence score between -1 and 1.
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ISSN: 1471-2350