NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

Table 3 Bioinformatic analysis of the two novel mutations

Gene	Nucleotide Change	Amino acid change	SIFT_Predict	PolyPhen_2_Predict	MutationTaster_Predict	Conservation	ACMG classification
TYR	c.559_560insCATTATTATGTGTCAAATTATCCCC	p.G190Cfs*12	NA	NA	NA	Conserved	PVS1,PM2,PP4 pathogenic
OCA2	c.1514 T > C	p.F505S	Damaging	Probably_damaging	Disease_causing	Conserved	PM2,PM3,PP3,PP4 likely pathogenic

SIFT_Predict classification: damaging, tolerated; PolyPhen_2_Predict classification: damaging, probably damaging, benign; MutationTaster_Predict classification: disease-causing, polymorphism. ACMG classification: pathogenic, likely pathogenic, uncertain significance, likely benign and benign
NA Not available

ISSN: 1471-2164