Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

BMC Medical Genetics

Table 5 Bioinformatics Analysis of Four Novel Mutations

			Prediction tool
Gene	Nucleotide change	Amino acid change	PolyPhen-2	SIFT	Mutation Taster	Familial segregation	Vertebrate conservation ^a	ACMG classification
TYR	c.561_562insTTATTATGTGTCAAATTATCCCCCA	p.G190Cfs*12	NA	NA	Disease causing	Yes	0	pathogenic
OCA2	c.1139-1141delTGG	p.V379I380del	NA	NA	Disease causing	Yes	0	Likelypathogenic
OCA2	c.2495A > C	p.H832P	Probablydamaging	damaging	Disease causing	Yes	0	Likelypathogenic
OCA2	c.2195C > G	p.S732X	NA	NA	Disease causing	Yes	0	pathogenic

Output prediction of each tool—PolyPhen-2 classification: damaging, probably damaging, benign. SIFT classification: damaging, tolerated. MutationTaster classification: disease-causing, polymorphism. Allele frequency: Allele frequencies were checked in dbSNP138, 1000 Genomes Project, HapMap Project, and ExAC database. ^aVertebrate conservation: Yes, conserved in more than 80% of all vertebrates aligned; No, conserved in less than 80% of all vertebrates aligned. ACMG classification: pathogenic, likely pathogenic, uncertain significance, likely benign and benign. NA, not available

ISSN: 1471-2350