Table 5.

AQP2 gene mutations identified in two probands from two distinct pedigrees

Index	Sex	Nucleotide change	Homozygous/heterozygous	Amino acid Change	Mutation type	Encoding region	Protein location	Parent origin	Consanguinity	Family history	References
1	M	c.127_128delCA	Heterozygous	G43Dfs*63	Frame-shift	Exon1	TMD-2	Mother	No	Negative	[20] No in vitro study Novel
		c.501_502 insC		V168Rfs*30	Frame-shift	Exon2	TMD-5	Father
2	M	c. 643G>A	Homozygous	G215S	Missense	Exon 4	TMD-6	Mother/father	Yes	Negative	Novel

M, male; TMD, transmembrane domain.