I500-F508del (LQT2)

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COMMENT
Delta I500-F508 was expressed in Xenopus Oocytes by Sanguinetti et al. in 1996. No detectable current was recorded after cRNA injection of mutant channel alone, while no significant difference in transmembrane current was observed after co-expression with wild-type channel. Thus, this mutant is not able to form functional channels and a 50% current loss is expected in vivo as a consequence of the mutation.