Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy

Table 1 Mutations of COL8A2 gene on chromosome 1p34.3 and changes in its protein domain

Gene	Nucleotide change	Amino acid change	References
COL8A2	c.464G > A	p.R155Q	[17,18,19,20]
	NA	p.R304Q	[17, 19]
	NA	p.R434H	[17, 19]
	NA	p.Q455K	[17, 19]
	NA	p.G357R	[17, 19]
	NA	p.P575L	[17, 19]
	c.1370-1371CA > GT	p.Q455V	[18, 19]
	c.105G > A	p.A35A	[18,19,20]
	c.1485G > A	p.G495G	[18,19,20]
	c.1505C > T	p.T502M	[18, 20]
	NA	p.G3R	[19]
	c.1330 T > C	p.A441A	[19]
	c.1349 T > G	p.L450W	[8, 19]
	NA	p.P486P	[19]
	c.1610G > A	p.D537N	[19]
	c.1643A > G	p.N548S	[19]
	NA	p.P586P	[19]
	c.1951G > A	p.Y648Y	[19]
	c.1005C > G	p.L335L	[20]
	c.1526C > A	p.P508P	[21]
	c.1491G > A	p.A497T	[21]

ISSN: 2326-0254