Table 5 of Kim, Mol Vis 2011; 17:2093-2101.


Table 5. Single nucleotide polymorphisms of MYOC in korean patients with PCG.

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