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We study A799V, plus three laboratory\u2010generated mutants A799G, A799I and A799S.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>A799V and A799I show increased intracellular retention in MDCK cells. All four mutants exhibit a reduced per\u2010molecule Na<jats:sup>+<\/jats:sup>\/HCO<jats:sub>3<\/jats:sub><jats:sup>\u2212<\/jats:sup> cotransport activity in oocytes. These observations probably underlie the inability of A799V to regulate blood pH.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>A799V and A799I exhibit a novel, DIDS\u2010stimulated, HCO<jats:sub>3<\/jats:sub><jats:sup>\u2212<\/jats:sup>\u2010independent conductance \u2013 the first example in an electrogenic NBC. This observation could underlie the contribution of A799V towards muscle weakness.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>A799G and A799S exhibit unusual outward rectification. A799G is unusually insensitive to DIDS and tenidap. Thus Alanine\u2010799 is a critical determinant of correct NBCe1 function.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1113\/jphysiol.2011.224733","type":"journal-article","created":{"date-parts":[[2012,2,14]],"date-time":"2012-02-14T03:41:25Z","timestamp":1329190885000},"page":"2009-2034","source":"Crossref","is-referenced-by-count":30,"title":["HCO<sub>3<\/sub><sup>\u2212<\/sup>\u2010independent conductance with a mutant Na<sup>+<\/sup>\/HCO<sub>3<\/sub><sup>\u2212<\/sup> cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis"],"prefix":"10.1113","volume":"590","author":[{"given":"Mark D.","family":"Parker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalind C.","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley M.","family":"Toye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter F.","family":"Boron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.28.17689"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00204-3"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(96)00289-X"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.2000.278.6.C1200"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.2001.281.5.F920"},{"key":"e_1_2_6_7_1","first-page":"652","volume-title":"Medical Physiology. 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