Table 1

Novel variants and known questionably causative mutations of 263 patients with PP and 474 controls

nucleotide amino acid
Index, nLocalisationPolyPhen2Mutation
ConservationdbSNP (KCNJ12)Severity/ segregation
Patients with PP
–3G>A1Intron 2–3, no splice site predictedNo entry–/–
44T>CL15S1N+50 (1089)–/–
241C>TR81C1N+++No entry–/0
926C>TT309I1C+++No entry–/–
1019T>CI340T1CNo info+/0
1094A>GN365S1C++No entry–/0
1180G>AG394R1CNo info+/–
1201C>TR401W1C(+)No entry+/–
–7C>T1Intron 2–3, no splice site predictedNo entryNA
44T>CL15S2N+50 (1089)NA
100G>AG34S1N(+)++No entryNA
242G>CR81P1N+++No entryNA
578C>TT193M1C+++No infoNA
754G>AD252N3C+No infoNA
782G>AR261H1C+++No infoNA
759insTE273X3C+No entryNA
1037A>GH346R1C+++No entryNA
1137C>AN379K1C+++No entryNA
1153A>CS385R1C+No entryNA
1228C>TH410Y1C(+)+No entryNA
  • PolyPhen2: benign –, possibly damaging (+), probably damaging +; mutation taster: disease-causing +, benign polymorphism –; conservation: 100% conserved (16/16) +, <100% conserved –; dbSNP (KCNJ12): alignment was performed with KCNJ12 because KCNJ18 data are not available and the identity of the two coding sequences is 98.7%; severity: mild –, severe +; segregation: no segregation –, no available relatives 0.

  • *Published as potential causative mutations previously.7

  • NA, not applicable; PP, periodic paralysis.