{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:50:26Z","timestamp":1790614226170,"version":"4.1.0"},"reference-count":88,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,8,22]],"date-time":"2008-08-22T00:00:00Z","timestamp":1219363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal Cellular Physiology"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine\u2010vasopressin receptor 2 gene (<jats:italic>AVPR2<\/jats:italic>). We retrospectively examined all the published mutations\/variants in <jats:italic>AVPR2<\/jats:italic>. We planned to perform a comprehensive review of all the <jats:italic>AVPR2<\/jats:italic> mutations\/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than others. We performed a Medline search and collected detailed information regarding all <jats:italic>AVPR2<\/jats:italic> mutations and variants. We performed a frequency comparison between mutated and wild\u2010type amino acids and codons. We predicted the mutation effect or reported it based on published in vitro studies. We also reported the ethnicity of each mutation\/variant carrier. In summary, we identified 211 <jats:italic>AVPR2<\/jats:italic> mutations which cause NDI in 326 families and 21 variants which do not cause NDI in 71 NDI families. We described 15 different types of mutations including missense, frameshift, inframe deletion, deletion, insertion, nonsense, duplication, splicing and combined mutations. The missense mutations represent the 55.83% of all the NDI published families. Arginine and tyrosine are significantly (<jats:italic>P<\/jats:italic>\u2009=\u20094.07E\u221208 and <jats:italic>P<\/jats:italic>\u2009=\u20093.27E\u221204, respectively) the <jats:italic>AVPR2<\/jats:italic> most commonly mutated amino acids. Alanine and glutamate are significantly (<jats:italic>P<\/jats:italic>\u2009=\u20090.009 and <jats:italic>P<\/jats:italic>\u2009=\u20090.019, respectively) the least mutated <jats:italic>AVPR2<\/jats:italic> amino acids. The spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense. The <jats:italic>AVPR2<\/jats:italic> mutations are spread world\u2010wide. Our study may serve as an updated review, comprehensive of all <jats:italic>AVPR2<\/jats:italic> variants and specific gene locations. J. Cell. Physiol. 217: 605\u2013617, 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcp.21552","type":"journal-article","created":{"date-parts":[[2008,8,22]],"date-time":"2008-08-22T12:36:14Z","timestamp":1219408574000},"page":"605-617","source":"Crossref","is-referenced-by-count":120,"title":["AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance"],"prefix":"10.1002","volume":"217","author":[{"given":"Elias","family":"Spanakis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edrice","family":"Milord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gragnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,8,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1681\/ASN.V9101861","article-title":"Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: Molecular basis of a mild clinical phenotype","volume":"9","author":"Ala Y","year":"1998","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1681\/ASN.V1161033","article-title":"Nephrogenic diabetes insipidus: Functional analysis of new AVPR2 mutations identified in Italian families","volume":"11","author":"Albertazzi E","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V1161044"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0388-8"},{"key":"e_1_2_6_6_1","first-page":"29","volume-title":"Biochemistry","author":"Berg JM","year":"2007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(98)00301-5"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116698"},{"key":"e_1_2_6_9_1","first-page":"278","article-title":"Nature and recurrence of AVPR2 mutations in X\u2010linked nephrogenic diabetes insipidus","volume":"55","author":"Bichet DG","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","first-page":"387","article-title":"Vasopressin receptor mutations causing nephrogenic diabetes insipidus","volume":"110","author":"Bichet DG","year":"1998","journal-title":"Proc Assoc Am Physicians"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0188-4409(99)00063-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.10.157"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2006.05.001"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02073-4"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000223554.46981.7a"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/000456329903600616"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200002"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000189581"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1797.2006.00759.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278187"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/274775a0"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10011"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2004.02042.x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-7-53"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1685"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.03054.x"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.18.8457"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005040371"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M409992200"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.23.14800"},{"key":"e_1_2_6_32_1","first-page":"1401","article-title":"Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients","volume":"82","author":"Gu F","year":"2002","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.8.1201"},{"key":"e_1_2_6_34_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1681\/ASN.V52169","article-title":"Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus","volume":"5","author":"Holtzman EJ","year":"1994","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.1.381"},{"key":"e_1_2_6_36_1","first-page":"F235","article-title":"Immunolocalization and effect of dehydration on AQP3, a basolateral water channel of kidney collecting ducts","volume":"272","author":"Ishibashi K","year":"1997","journal-title":"Am J Physiol"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1340689"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/bip.360221211"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1053\/ajkd.2002.31993"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000431"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.1997.272.6.F816"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6807-7-56"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1042\/BC20040148"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03346263"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1994.256"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2007.20.4.483"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1086\/301965"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1152\/nips.01470.2003"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199305273282106"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.50.809"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.63.1.607"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.10.3434"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.2700"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050264"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(96)01075-7"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.41.119"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-103"},{"key":"e_1_2_6_58_1","doi-asserted-by":"crossref","first-page":"31933","DOI":"10.1016\/S0021-9258(18)31785-X","article-title":"The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin","volume":"269","author":"Pan Y","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.4.1703"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.37.11.729"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.37.4.205"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00491.2005"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<233::AID-HUMU6>3.0.CO;2-O"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/359233a0"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.11.12.1806"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0062-y"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.104.032532"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh105"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:3<196::AID-HUMU7>3.0.CO;2-F"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<163::AID-HUMU8>3.0.CO;2-B"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020286"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380110188"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J"},{"key":"e_1_2_6_74_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199603000-00022"},{"key":"e_1_2_6_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31536"},{"key":"e_1_2_6_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0083-6729(04)68003-4"},{"key":"e_1_2_6_77_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.2578"},{"key":"e_1_2_6_78_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1995.327"},{"key":"e_1_2_6_79_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M207525200"},{"key":"e_1_2_6_80_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-99"},{"key":"e_1_2_6_81_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214189"},{"key":"e_1_2_6_82_1","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1681\/ASN.V8121855","article-title":"Mutations in the vasopressin V2 receptor and aquaporin\u20102 genes in 12 families with congenital nephrogenic diabetes insipidus","volume":"8","author":"Vargas\u2010Poussou R","year":"1997","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_83_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1429"},{"key":"e_1_2_6_84_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.103.3.632"},{"key":"e_1_2_6_85_1","first-page":"266","article-title":"Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus","volume":"55","author":"Wildin RS","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_86_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.1998.00214.x"},{"key":"e_1_2_6_87_1","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1681\/ASN.V73410","article-title":"A low\u2010affinity vasopressin V2\u2010receptor gene in a kindred with X\u2010linked nephrogenic diabetes insipidus","volume":"7","author":"Yokoyama K","year":"1996","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_88_1","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2006.47.1.126"},{"key":"e_1_2_6_89_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.79.2.361"}],"container-title":["Journal of Cellular Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcp.21552","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcp.21552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T16:27:39Z","timestamp":1697128059000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcp.21552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,22]]},"references-count":88,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1002\/jcp.21552"],"URL":"https:\/\/doi.org\/10.1002\/jcp.21552","archive":["Portico"],"relation":{},"ISSN":["0021-9541","1097-4652"],"issn-type":[{"value":"0021-9541","type":"print"},{"value":"1097-4652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,22]]}}}