Table 1. PALLD sequence variants.
Exon | Nucleotide change | Amino acid change | Frequency | SNP database |
---|---|---|---|---|
2 | c. 236 A > G | Ser-Gly | GG = 0.52 | rs62333013 |
AG = 0.35 | ||||
AA = 0.13 | ||||
6 | c. 467 A > T | Ala-Ala | AA = 0.81 | No |
AT = 0.19 | ||||
TT = 0 | ||||
7 | c. 492 A > G | Arg-Arg | AA = 0.90 | rs1059444 |
AG = 0.02 | ||||
GG = 0.08 | ||||
12 | n. 4019 G > A | 3′ UTR | GG = 0.83 | rs1136603 |
GA = 0.16 | ||||
AA = 0.02 | ||||
12 | n. 4171 C > G | 3′ UTR | CC = 0.18 | rs1071738 |
CG = 0.39 | ||||
GG = 0.46 |
Abbreviations: SNP, single nucleotide polymorphism; UTR, untranslated region.