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Table 5 Mutations of AGBL1 gene on chromosome 15q25.3 and changes in its protein domain

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

Gene

Nucleotide change

Amino acid change

References

AGBL1

c.2969G > C

p.C990S

[51]

c.3082C > T

p.R1028*

[51]

  1. *indicates that the mutation causes the stop codon to appear prematurely at position 1028
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Eye and Vision

ISSN: 2326-0254