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. 2015 Mar 15;8(3):3629–3639.

Figure 2.

Figure 2

Mutations in AQP2 in Pedigree 2 and the genetic profile of the proband. A. The pedigree of a consanguineous Chinese family with NDI. B. Partial sequence of the AQP2 gene from proband 2’s mother (IV:4) showing a heterozygous guanine-to-adenine change at nucleotide position 643 (c.643G>A) in exon 4, causing a glycine-to-serine substitution at codon 215 (p.G215S). C. Partial sequence of the AQP2 gene from proband 2’s father (IV:5) showing a heterozygous guanine-to-adenine change at nucleotide position 643 (c.643G>A) in exon 4, causing a glycine-to-serine substitution at codon 215 (p.G215S). D. Partial sequence of the AQP2 gene from the proband 2’s older sister (V:1). E. Partial sequence of the AQP2 gene from proband 2 (V:3) showing a homozygous guanine-to-adenine change at nucleotide position 643 (c.643G>A) in exon 4 causing a glycine-to-serine substitution at codon 215 (p.G215S). Red arrows indicate the gene mutation.