Table 1.

PALLD sequence variants

ExonNucleotide changeAmino acid changeFrequencySNP database
2c. 236 A > GSer-GlyGG = 0.52rs62333013
AG = 0.35
AA = 0.13
6c. 467 A > TAla-AlaAA = 0.81No
AT = 0.19
TT = 0
7c. 492 A > GArg-ArgAA = 0.90rs1059444
AG = 0.02
GG = 0.08
12n. 4019 G > A3′ UTRGG = 0.83rs1136603
GA = 0.16
AA = 0.02
12n. 4171 C > G3′ UTRCC = 0.18rs1071738
CG = 0.39
GG = 0.46
  • Abbreviations: SNP, single nucleotide polymorphism; UTR, untranslated region.