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

From: Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy

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]
  1. NA not available