Table 4 of Kapoor, Mol Vis 2012; 18:2022-2032.


Table 4. Mutations reported so far in the EDN3 gene.


Sl.
#


Mutation


Exon
Nature
of
mutation
State
of
zygosity


Effect on protein
Ethnic
origin of
family


Reference
1 c.163G>T (p.E55X) 2 Nonsense Homozygous Predicted to result in complete absence of active form of peptide French [26]
2 c.262_263delGCinsT (p.Ala88SerfsX12) 2 Frameshift Homozygous Predicted to result in complete absence of active form of peptide 1 French & 1 Bosnian [2,9]
3 c.277C>G (p.R93G) 2 Missense Homozygous Predicted to impair furin-mediated proteolytic cleavage of preproendothelin Egyptian [30]
4 c.286C>T (p.R96C) 2 Missense Homozygous Predicted to impair furin-mediated proteolytic cleavage of preproendothelin French [2]
5 c.293C>A (p.T98K) 2 Missense Homozygous Predicted to result in absence of active form of protein Indian [2]
6 c.293C>T (p.T98M) 2 Missense Homozygous Predicted to result in absence of active form of protein Indian Present study
7 c.335A>G (p.H112R) 2 Missense Homozygous Could disrupt the formation of disulphide bond Spanish [29]
8 c.380A>G (p.Y127C) 3 Missense Homozygous Could alter disulphide bond formation in the endothelin and/or the ETlike peptide regions Indian [28]
9 c.476G>T (p.C159F) 3 Missense Homozygous Presumably results in less efficient cleavage or even complete failure of cleavage of prepro-endothelin 3 Pakistani [2,25]
10 c.507C>A (p.C169X) 3 Nonsense Heterozygous Prevents the disulphide bond formation and probably generates an inappropriately cleaved, inactive proendothelin Yugoslavian [27]
11 c.517T>C (p.C173R) 3 Missense Compound heterozygosity with p.T98K Prevents the disulphide bond formation Indian [2]