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. 2016 Oct 4;13:225–236. doi: 10.1016/j.ebiom.2016.10.002

Table 1.

CACNA1H variations identified in patients with PA.

Patient Form of PA Variant cDNA Variant protein Domain
K055-3 Young onset c.4647G>C p.Met1549Ile Tm S6, repeat III
K475-1 FH-II c.587C>T p.Ser196Leu Tm S4, repeat I
K173-1 FH-II c.6248C>T p.Pro2083Leu Cytoplasmic
K135-1 Sporadic APA c.5852T>A p.Val1951Glu Cytoplasmic

TM: transmembrane; FH-II: familial hyperaldosteronism type II; NM_02198; NP_066921.