Table 4 Allelic frequencies of the OCA2 gene in 26 Chinese OCA2 patients
From: Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
Nucleotide change | Amino acid change | Status (Number of the patients) | Frequency percentage(%) |
|---|---|---|---|
C.808-3C > G | splice site | Homo (1), Hetero (6) | 15.4 |
c.1327G > A | p.V443I | Hetero (5) | 9.6 |
c.1423A > C | p.T475P | Hetero (1) | 1.9 |
c.1363A > G (p.R455G) | p.R455G | Hetero (1) | 1.9 |
c.1139-1141delTGG | Other site | Hetero (1) | 1.9 |
c.2195C > G | p.S732* | Hetero (2) | 3.8 |
c.593C > T | p.P198L | Homo (1), Hetero (1) | 5.8 |
C.1560–1562 delCCT | Other site | Hetero (1) | 1.9 |
C.2363 T > C | p.H832P | Hetero (1) | 1.9 |
c.1441G > A (p.A481T) | p.A481T | Hetero (1) | 1.9 |
c.1182 + 1G > A | splice site | Hetero (2) | 3.8 |
C.2363 T > C | p.S788 L | Hetero (1) | 1.9 |
c.1832 T > C | p.L611P | Homo (3), Hetero (10) | 30.8 |
c.2359G > A (p.A787T) | p.A787T | Hetero (1) | 3.8 |
c.1349C > T | p.T450 M | Hetero (2) | 3.8 |
c.632C > T | p.P211L | Hetero (2) | 3.8 |
c.1714C > T | p.R572C | Hetero (1) | 1.9 |
c.2180 T > C) | p.L727P | Hetero (2) | 3.8 |
c.1001C > T (p.A334V) | A334V | Hetero (1) | 1.9 |