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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