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

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

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]
  1. NA not available