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. Author manuscript; available in PMC: 2011 Jan 24.
Published in final edited form as: Circulation. 2009 Oct 19;120(18):1752–1760. doi: 10.1161/CIRCULATIONAHA.109.863076

Table 3.

Estimated Predictive Values for Missense Mutations in Clinically Definite LQTS Cases

Gene Location Mutation Positive Estimated Predictive Value (95% CI)
Case Control
KCNQ1 N-terminus 1/388 1/1344 71 (0–98)
Transmembrane/Linker/Pore 50/388 7/1344 96 (91–98)
C-terminus
  • -

    Subunits assembly domain (SAD)

  • -

    C-terminus outside of SAD

 36/388
  • -

    7/388

  • -

    29/388

 6/1344
  • -

    0/1344

  • -

    6/1344

 95 (89–98)
  • -

    100 (64–100)

  • -

    94 (86–98)
KCNH2 N-terminus
  • -

    PAS/PAC domains

  • -

    N-terminus outside of PAS/PAC domains

 10/388
  • -

    5/388

  • -

    5/388

 13/1369
  • -

    0/1369

  • -

    13/1369

 63 (17–84)
  • -

    100 (48–100)

  • -

    26 (0–74)
Transmembrane/Linker/Pore 47/388 0/1369 100 (95–100)
C-terminus
  • -

    cyclic nucleotide binding domain (cNBD)

  • -

    C-terminus outside of cNBD

 15/388
  • -

    6/388

  • -

    9/388

 14/1369
  • -

    0/1369

  • -

    14/1369

 74 (46–87)
  • -

    100 (58–100)

  • -

    56 (0–81)
SCN5A N-terminus 0/388 2/1380 0 (0–95)
Transmembrane/Linker 12/388 5/1380 88 (67–96)
Inter-domain linker (IDL) 5/388 22/1380 0 (0–53)
C-terminus 8/388 7/1380 75 (33–91)

EPV = (Case rate − Control rate)/Case rate