Table 2

KCNV2 mutation analysis results

CaseMutation statusProtein domain/positionReferences
MutationStudy subject
1c.451T→C, p.Phe151Leu†Cytoplasmic (NAB)Robson et al6Case partially detailed in Robson et al6
Not identifiedNot applicable
2c.427G→T, Glu143X*Cytoplasmic (NAB)Wu et al3Previously unreported case; family members partially detailed in Wu et al3 and Robson et al6
3 and 4c.964G→C, p.Ala322Pro†Transmembrane (S2)NovelPreviously unreported cases
c.1381G→A, p.Gly461Arg†Pore (P loop)Thiagalingam et al11
5c.1318C→T, p.Thr439Ile*ExtracellularNovelPreviously unreported case
6 and 7c.568delG, p.Gly189fsX21*CytoplasmicNovelCases partially detailed in Robson et al6
8c.916G→T, p.Glu306X*Transmembrane (S2)Wu et al3Case partially detailed in Wu et al3 and Robson et al6
9c.1381G→A, p.Gly461Arg†Pore (P loop)Thiagalingam et al11Case partially detailed in Robson et al6
c.1637T→C, p.X546TyrextX61†Cytoplasmic (C-term)Thiagalingam et al11
10c.430C→T, p.Gln145X†Cytoplasmic (NAB)Wu et al3Case partially detailed in Wu et al3 and Robson et al6
c.776C→T, p.Ala259Val†Extracellular (EC1)Wu et al3
11c.1199delT, p.Phe400fsX53†CytoplasmicNovelCase partially detailed in Robson et al6
c.8_11delAACA, p.Lys3fsX93†Cytoplasmic (N-term)Novel
12c.1381G→A, p.Gly461Arg*Pore (P loop)Thiagalingam et al11Case partially detailed in Robson et al6

  • Cases 3 and 4 and cases 5 and 6 are pairs of siblings. NAB indicates the cytoplasmic domain N-terminal A and B box.

  • ↵* Homozygous state.

  • ↵† Heterozygous state.