Table 3.
ABCA4 Variants Found in Patients of African American Origin, Ranked by Allele Frequency and Compared with the Frequency in the Patients of European Descent
| African origin cohort (44) |
European origin cohort (244) |
|||||
|---|---|---|---|---|---|---|
| Variant | Alleles | Allele frequency | Frequency by EVS | Alleles | Allele frequency | Frequency by EVS |
| p.R2107H | 17 | 19.32 | 2.04 | 5 | 1.02 | 0.01 |
| p.L1201Ra | 12 | 13.64 | 9.35 | 1 | 0.20 | 0.05 |
| p.V989A | 6 | 6.82 | 0.25 | 1 | 0.20 | |
| p.R1300Qa | 5 | 5.68 | 6.17 | 2 | 0.41 | 0.05 |
| p.V643Ma | 3 | 3.41 | 1.82 | |||
| p.G991R | 3 | 3.41 | 0.64 | 2 | 0.41 | |
| p.S1642Ia | 3 | 3.41 | 1.23 | |||
| p.R2040Q | 3 | 3.41 | 0.05 | 0.01 | ||
| c.5461-10T>C | 3 | 3.41 | 23 | 4.71 | 0.03 | |
| p.P309R | 2 | 2.27 | 0.16 | |||
| p.G1961E | 2 | 2.27 | 0.11 | 55 | 11.27 | 0.42 |
| p.P62S | 1 | 1.14 | ||||
| c.302+1G>A | 1 | 1.14 | ||||
| c.768G>T | 1 | 1.14 | ||||
| p.R220C | 1 | 1.14 | ||||
| p.W339G | 1 | 1.14 | ||||
| p.D403V | 1 | 1.14 | ||||
| p.V513Aa | 1 | 1.14 | ||||
| p.E531G | 1 | 1.14 | 0.09 | |||
| p.R537C | 1 | 1.14 | 0.02 | |||
| p.G607R | 1 | 1.14 | 0.02 | |||
| p.R681* | 1 | 1.14 | ||||
| p.V849Aa | 1 | 1.14 | 1.23 | |||
| p.P870S | 1 | 1.14 | ||||
| p.N965S | 1 | 1.14 | 3 | 0.61 | 0.01 | |
| p.V931Ma | 1 | 1.14 | 0.41 | |||
| p.F1015L | 1 | 1.14 | ||||
| p.I975M | 1 | 1.14 | 0.02 | |||
| p.T983A | 1 | 1.14 | 1 | 0.20 | ||
| p.L1126P | 1 | 1.14 | ||||
| p.L1138P | 1 | 1.14 | ||||
| p.Y1139Ca | 1 | 1.14 | 0.09 | |||
| c.3523-1G>A | 1 | 1.14 | ||||
| p.R1300* | 1 | 1.14 | ||||
| p.P1380L | 1 | 1.14 | 26 | 5.33 | 0.02 | |
| p.W1408L | 1 | 1.14 | ||||
| c.4253+4C>T | 1 | 1.14 | 1 | 0.20 | ||
| c.4537dup | 1 | 1.14 | 1 | 0.20 | ||
| c.4540-2A>G | 1 | 1.14 | 3 | 0.61 | ||
| p.R1640W | 1 | 1.14 | 3 | 0.61 | ||
| p.L1729P | 1 | 1.14 | ||||
| p.V1686M | 1 | 1.14 | 0.07 | 1 | 0.20 | 0.03 |
| p.V1693Ia | 1 | 1.14 | 0.18 | |||
| c.5289del | 1 | 1.14 | ||||
| p.K1978E | 1 | 1.14 | ||||
| p.R2077G | 1 | 1.14 | 1 | 0.20 | ||
| p.R2106C | 1 | 1.14 | 0.05 | 1 | 0.20 | |
Frequency by EVS—frequency of the variant in the general populations of, respectively, African American and European descent as determined in the Exome Variant Server (http://snp.gs.washington.edu/EVS/; accessed March 2014).
a
Benign variants.