Skip to main content

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

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

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]
  1. NA not available