A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

Table 2 A summary of the found variants in all exons of WFS1 gene in this study

Region	Nucleotide changes	Amino acid changes	Types of variation	Status	Subjects
Exon 5	c. 684 C > G	No change	Silent mutation		All members
Exon 8	c. 997 G > A	V333I	Missense mutation	polymorphism	All members
Exon 8	c. 1185 C > T	No change	Silent mutation		All members
Exon 8	c. 1500 C > T	No change	Silent mutation		All members
Exon 8	c. 1832 G > A	R611H	Missense mutation	polymorphism	All members
Exon 8	*c. 2067_2076 del 10*	*W690fsX706*	Frameshift mutation	Heterozygous (novel)	I-2(mother), II-2 (patient)
Exon 8	c. 2433 G > A	No change	Silent mutation		All members
Exon 8	c. 2565 A > G	No change	Silent mutation		All members

ISSN: 1472-6823