K897T-P967L-R1047L-Q1068R (KCNH2)

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COMMENTS

These polymorphisms were analyzed in detail by: Anson et al.2004

Four SNPs have been functionally characterized in this study: K897T, P967L, R1047L, and Q1068R.

  1. K897T current density was lower than the WT and the other polymorphic channels. K897T channels also activated at more negative potentials than WT and R1047L,
  2. K897T and Q1068R channels inactivated and recovered from inactivation faster than WT, P967L and R1047L channels,
  3. P967L and R1047L channels were electrophysiologically indistinguishable from WT.

Overall, the data reported in this study suggest that some relatively common anino acid substitutions in ion channel encoding genes, may have functional consequences. Whether or not these SNPs are also create a clinical susceptibility to cardiac arrhythmias, it remains to be established.

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For K897T see also here.

 

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