New sequence variations identified in healthy controls
| Exon . | Nucleotide . | Amino acid . | Observations, n . | ||
|---|---|---|---|---|---|
| Total . | African Americans . | Whites . | |||
| 5 | 391G > A | G131S | 5 | 5 | 0 |
| 9 | 1037C > T | T346I | 1 | 1 | 0 |
| 9 | 1087C > T | L363F | 1 | 0 | 1 |
| 12 | 1306C > T | R436C | 1 | 1 | 0 |
| 13 | 1463C > G | A488G | 1 | 1 | 0 |
| 15 | 1781C > G | A594G | 1 | 0 | 1 |
| 15 | 1892C > T | A631V | 1 | 0 | 1 |
| 16 | 1958C > T | P653L | 1 | 0 | 1 |
| 19 | 2510C > A | A837D | 2 | 2 | 0 |
| 22 | 2900G > A | G967D | 7 | 7 | 0 |
| 23 | 3089A > G | Q1030R | 1 | 1 | 0 |
| 23 | 3101_3103delCCA | T1034del | 2 | 2 | 0 |
| 26 | 3485_3486CA > TG | P1162L | 1 | 1 | 0 |
| 28 | 3979G > A | A1327T | 1 | 0 | 1 |
| 30 | 5173C > T | P1725S | 2 | 2 | 0 |
| 31 | 5384C > T | A1795V | 1 | 1 | 0 |
| 35 | 5875G > A | V1959M | 1 | 0 | 1 |
| 42 | 7150C > T | R2384W | 2 | 2 | 0 |
| 49 | 7997C > T | T2666M | 12 | 10 | 2 |
| 49 | 8084C > G | P2695R | 1 | 0 | 1 |
| 52 | 8378T > C | V2793A | 1 | 1 | 0 |
| Total | 46 | 37 | 9 | ||
| Percentage of total | 80.4% | 19.6% | |||
| Exon . | Nucleotide . | Amino acid . | Observations, n . | ||
|---|---|---|---|---|---|
| Total . | African Americans . | Whites . | |||
| 5 | 391G > A | G131S | 5 | 5 | 0 |
| 9 | 1037C > T | T346I | 1 | 1 | 0 |
| 9 | 1087C > T | L363F | 1 | 0 | 1 |
| 12 | 1306C > T | R436C | 1 | 1 | 0 |
| 13 | 1463C > G | A488G | 1 | 1 | 0 |
| 15 | 1781C > G | A594G | 1 | 0 | 1 |
| 15 | 1892C > T | A631V | 1 | 0 | 1 |
| 16 | 1958C > T | P653L | 1 | 0 | 1 |
| 19 | 2510C > A | A837D | 2 | 2 | 0 |
| 22 | 2900G > A | G967D | 7 | 7 | 0 |
| 23 | 3089A > G | Q1030R | 1 | 1 | 0 |
| 23 | 3101_3103delCCA | T1034del | 2 | 2 | 0 |
| 26 | 3485_3486CA > TG | P1162L | 1 | 1 | 0 |
| 28 | 3979G > A | A1327T | 1 | 0 | 1 |
| 30 | 5173C > T | P1725S | 2 | 2 | 0 |
| 31 | 5384C > T | A1795V | 1 | 1 | 0 |
| 35 | 5875G > A | V1959M | 1 | 0 | 1 |
| 42 | 7150C > T | R2384W | 2 | 2 | 0 |
| 49 | 7997C > T | T2666M | 12 | 10 | 2 |
| 49 | 8084C > G | P2695R | 1 | 0 | 1 |
| 52 | 8378T > C | V2793A | 1 | 1 | 0 |
| Total | 46 | 37 | 9 | ||
| Percentage of total | 80.4% | 19.6% | |||
Twenty-one new sequence variations were identified. The variations were mainly observed in African Americans (80.4%) versus whites (19.6%). Thirteen of 21 variations were only observed in African Americans (shaded). G131S, G967D, and T2666M were present in 5 or more individuals. All these controls had normal laboratory values except for the sample with A631V, which had low VWF:Ag (36 IU/dL) and decreased VWF:RCo (46 IU/dL) but a normal VWF:RCo/VWF:Ag ratio.