Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy

Table 4 Mutations of SLC4A11 gene on chromosome 20p13 and changes in its protein domain

Gene	Nucleotide change	Amino acid change	References
SLC4A11	c.501G > C	p.E167D	[9]
	c.845G > C	p.R282P	[9]
	c.1577A > G	p.Y526C	[9]
	c.1723G > A	p.V575M	[9]
	c.1748G > A	p.G583D	[9]
	c.2224G > A	p.G742R	[9]
	c.2500G > A	p.G834S	[9]
	c.497A > G	p.N150S	[19]
	c.522C > T	p.R158R	[19]
	c.1437G > A	p.T463T	[19]
	c.2232G > A	p.H728H	[19]
	c.2706C > T	p.D886D	[19]
	c.1659C > T	p.N553N	[19]
	c.1195G > A	p.E399K	[47]
	c.2126G > A	p.G709E	[47, 48]
	c.2261C > T	p.T754M	[47]
	c.99-100delTC	p.S33SfsX18	[47]
	c.405G > A	p.A135A	[19, 47]
	c.481A > C	p.R161R	[19, 47]
	c.639G > A	p.S213S	[19, 20, 47]
	c.951G > A	p.T317T	[47]
	c.1179C > T	p.F393F	[47]
	c.1215C > T	p.I405I	[47]
	c.1620C > T	p.L540L	[47]
	c.1938G > A	p.A646A	[47]
	c.2499G > A	p.T833T	[19, 20, 47]
	c.215A > C	p.N72T	[47]
	c.271A > G	p.M91V	[47]
	c.1694C > T	p.S565L	[47]
	c.719G > C	p.W240S	[48]
	c.1304C > T	p.T434I	[48]
	c.1519G > A	p.V507I	[48]
	c.2027A > G	p.Q676R	[49]
	c.2195dupT	p.L732fs	[49]
	c.1237G > A	p.G413R	[49]
	c.2263C > T	p.R755W	[49]
	NA	p.R869H	[49]

ISSN: 2326-0254