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 |
Abbreviation: SNP, single nucleotide polymorphism; NA, not applicable. Bold lettering is used to represent novel variations in this study.