Table 1. Characteristics of PROM1 SNP in Chinese family with adSTGD and analysis of their predicted protein structure and disease-causing effects.

Exon	Variation				Polyphen-2	Mutation Taster	I-Mutant3.0	SIFT	EXAC
	Nucleotide*	Protein*	Type	Status
7	c.734 T>C	P.L245P	Missense	Heter	PD (1.000)	DC (98)	DS (-1.59 kcal/mol)	D (0.01)	Novel

Abbreviations: c, variation at cDNA level; p, variation at protein level; L245P, Proline substitution conserved leucine at codon 245; Heter, heterozygote; PD, probably damaging; DC, disease causing; DS, Decrease stability; D, damaging.

* All nucleotide and amino acid abbreviated according the International Union of Pure and Applied Chemistry (IUPAC).