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. 2017 Oct 27;22(2):1350–1354. doi: 10.1111/jcmm.13409

Figure 2.

Figure 2

R189X nonsense mutation leads to functional haploinsufficiency of GPD1L. (A) HEK293 cells were transfected with either His‐GPD1L (WT) or His‐GPD1L (R189X), Western blot was used to detect the expression of His‐GPD1L and β‐actin. Lane 1 and 2, transfected HEK293 cells with human WT GPD1L; Lane 3 and 4, transfected with mutant R189X GPD1L. Wt, wild‐type; Mu, mutant. (B) Localization of the known mutations on the linear topology of GPD1L. Asterisks stand for mutations associated with sudden cardiac death. Triangles stand for the symptoms in those cases associated with Brugada syndrome. NAD(P)‐bd_dom, NAD(P)‐binding domain; 6‐P‐Gluconate_DH, 6‐phosphogluconate dehydrogenase C‐terminal domain‐like, Underline stands for present study.