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

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]