Table 2.

Summary of PATL2 mutation analysis in two consanguineous families

	Chromosome 15	Mutation	Exon	Mutation type	ExAc allele frequency	SIFTa	Polyphen-2a	Mutation Tastera	M-CAPa
Family 1 (II-1 and II-2)	44958675	c.1528C>T p.P510T	15	Missense	Not found	D	P	D	D
Family 2 (II-2)	44959391	c.1376C>A p.S459Y	14	Missense	Not found	D	P	D	D

^aAnalysis of the harmfulness of mutations by using Sorting Intolerant From Tolerant (SIFT), Polymorphism Phenotyping (Polyphen-2), Mutation Taster, and Mendelian Clinically Applicable Pathogenicity (M-CAP). D, damaging; P, probably damaging