Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy

Table 3 Mutations of LOXHD1 gene on chromosome 18q21.1 and changes in its protein domain

Gene	Nucleotide change	Amino acid change	References
LOXHD1	c.5272A > T	p.T1758S	[13]
	c.1904 T > C	p.L635P	[13]
	NA	p.D53E	[13]
	NA	p.S81N	[13]
	c.469C > T	p.R157C	[13]
	NA	p.R524C	[13]
	c.1639C > T	p.R547C	[13]
	c.1759C > T	p.R587W	[13]
	c.1945G > A	p.D649N	[13]
	c.2251C > T	p.R751W	[13]
	NA	p.R787C	[13]
	NA	p.L1292F	[13]
	NA	p.E1742K	[13]
	c.5395C > T	p.R1800W	[13]
	NA	p.E1985Q	[13]
	NA	p.H2038N	[13]
	c.6413G > A	p.R2138Q	[38]
	c.3463A > G	p.R1155G	[38]
	c.6107 T > C	p.A2036V	[38]

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