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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7

Fig. 2

Nav1.7R1488* is a non-functional ion channel. a Representative current traces in response to activating voltage steps (lower panel). No inward currents were observed in any cells expressing Nav1.7R1488* (left panel, 0/20 cells) whereas prominent inactivating currents were observed in cells expressing Nav1.7WT (right panel, 16/20 cells). b Current-voltage relationship for cells expressing Nav1.7R1488* show no detectable current for the mutant whereas cells expressing Nav1.7WT exhibited a clear current-voltage relationship typical for voltage-gated sodium channels (− 13.0 ± 0.8 mV, n = 10). c Quantitative PCR shows that both Nav1.7R1488* and Nav1.7WT cells express comparable amount of mRNA demonstrating that the variant is likely to be non-functional at the protein level. No mRNA is detectable in a parental cell line

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