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. 2020 Oct 2;10:16383. doi: 10.1038/s41598-020-73089-x

Table 1.

Clinical characterization of NDI patients with V2R mutation in this study.

Case 1 2 3 4 5
Name L86P M272R W323_I324insR R113Q C192S
Type of mutation Missense Missense In-frame insertion Missense Missense
Locationa TM2 TM6 TM7 ECL1 ECL2
Gender M M M M M
Time to diagnosis 1 month 6 months 1.5 months 15 years 18 months
Serum Na+ (mM) 156 156 167 155 156
Serum Osm (mOsm/KgH2O) 316 320 345 315 317
U Osm pre dDAVP (mOsm/KgH2O) 229 65 82 140 120
U Osm post dDAVP (mOsm/KgH2O) 158 86 64 162 150

aTM, transmembrane; ECL, extracellular loop.