Table 5 of Kim, Mol Vis 2011; 17:2093-2101.
Location | Nucleotide change | Amino acid change | Allele frequency (%) | Reference SNP number | |||
---|---|---|---|---|---|---|---|
PCG (n=79) | Control (n=200) | ||||||
Exon1 | c.34G>C | p.G12R | G 2/158 (1.3) | C 156/158 (98.7) | G 395/400 (98.8) | C 5/400 (1.3) | Rare polymorphism [32,33], |
Exon1 | c.227G>A | p.R76K | G 8/158 (5.1) | A 150/158 (94.9) | G 383/400 (95.8) | A 17/400 (4.3) | rs2234926 |
Exon2 | c.624C>G | p.D208E | C 2/158 (1.3) | G 156/158 (98.7) | C 391/400 (97.8) | G 9/400 (2.3) | rs2234927 |
Intron2 | IVS2+35G>A | NA | G 10/158 (6.3) | A 148/158 (93.7) | G 71/400 (17.8) | A 329/400 (82.3) | rs2032555 |
Exon3 | c.864C>T | p.I288I | C 1/158 (0.6) | T 157/158 (99.4) | C 400/400 (100.0) | T 0/400 (0.0) | This study |
Exon3 | c.1058C>T | p.T353I | C 1/158 (0.6) | T 157/158 (99.4) | C 399/400 (99.8) | T 1/400 (0.3) | Rare polymorphism [33,36,38], |
Exon3 | c.1110G>A | p.P370P | G 1/158 (0.6) | A 157/158 (99.4) | G 400/400(100.0) | A 0/400 (0.0) | This study |