Reported VWF mutations identified in healthy controls (HC)
| Nucleotide . | Amino Acid . | VWD type . | Observations, n . | Frequency, % . | Average laboratory values, IU/dL . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HC . | AA . | W . | HC . | AA . | W . | VWF:Ag . | VWF:RCo . | FVIII . | VWFpp . | VWF:CB . | |||
| 385C > A | L129M | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 233 | 225 | 143 | 165 | 266 |
| 2220G > A | M740I | 1/2M | 12 | 12 | 0 | 6.3 | 18.2 | 0.0 | 112 (69-231) | 93 (57-248) | 102 (63-151) | 114 (88-167) | 134 (71-265) |
| 2451T > A | H817Q | 2N | 10 | 10 | 0 | 5.2 | 15.2 | 0.0 | 106 (69-231) | 91 (57-248) | 99 (63-151) | 115 (88-167) | 129 (71-265) |
| 2561G > A | R854Q | 2N | 2 | 0 | 2 | 1.0 | 0.0 | 1.7 | 122 (117-128) | 150 (145-155) | 92 (74-115) | 139 (134-145) | 115 (105-126) |
| 2771G > A | R924Q | 1/2N | 4 | 1 | 3 | 2.1 | 1.5 | 2.5 | 95 (82-114) | 135 (107-169) | 95 (78-18) | 96 (87-107) | 108 (93-138) |
| 3686T > G | V1229G | 1 | 3 | 3 | 0 | 1.6 | 4.5 | 0.0 | 157 (87-210) | 150 (97-193) | 109 (72-152) | 145 (114-171) | 152 (103-208) |
| 3692A > C | N1231T | 1 | 2 | 2 | 0 | 1.0 | 3.0 | 0.0 | 128 (87-187) | 137 (97-193) | 93 (72-119) | 140 (114-171) | 146 (103-208) |
| 4024C > T | R1342C | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 90 | 51 | 95 | 95 | 98 |
| 4751A > G | Y1584C | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 61 | 47 | 95 | 65 | 69 |
| 6187C > T | P2063S | 1 | 2 | 0 | 2 | 1.0 | 0.0 | 1.7 | 94 (74-119) | 84 (74-96) | 102 (75-138) | 114 (103-127) | 81 (65-102) |
| 6554G > A | R2185Q | 1 | 15 | 12 | 3 | 7.9 | 18.2 | 2.5 | 118 (69-231) | 120 (67-248) | 120 (89-198) | 113 (93-167) | 142 (96-265) |
| 6859C > T | R2287W | 1/2A | 2 | 2 | 0 | 1.0 | 3.0 | 0.0 | 103 (99-107) | 83 (71-98) | 124 (98-156) | 133 (128-138) | 116 (95-141) |
| 6938G > A | R2313H | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 173 | 220 | 162 | 184 | 227 |
| 7940C > T | T2647M | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 83 | 114 | 97 | 90 | 120 |
| Nucleotide . | Amino Acid . | VWD type . | Observations, n . | Frequency, % . | Average laboratory values, IU/dL . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HC . | AA . | W . | HC . | AA . | W . | VWF:Ag . | VWF:RCo . | FVIII . | VWFpp . | VWF:CB . | |||
| 385C > A | L129M | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 233 | 225 | 143 | 165 | 266 |
| 2220G > A | M740I | 1/2M | 12 | 12 | 0 | 6.3 | 18.2 | 0.0 | 112 (69-231) | 93 (57-248) | 102 (63-151) | 114 (88-167) | 134 (71-265) |
| 2451T > A | H817Q | 2N | 10 | 10 | 0 | 5.2 | 15.2 | 0.0 | 106 (69-231) | 91 (57-248) | 99 (63-151) | 115 (88-167) | 129 (71-265) |
| 2561G > A | R854Q | 2N | 2 | 0 | 2 | 1.0 | 0.0 | 1.7 | 122 (117-128) | 150 (145-155) | 92 (74-115) | 139 (134-145) | 115 (105-126) |
| 2771G > A | R924Q | 1/2N | 4 | 1 | 3 | 2.1 | 1.5 | 2.5 | 95 (82-114) | 135 (107-169) | 95 (78-18) | 96 (87-107) | 108 (93-138) |
| 3686T > G | V1229G | 1 | 3 | 3 | 0 | 1.6 | 4.5 | 0.0 | 157 (87-210) | 150 (97-193) | 109 (72-152) | 145 (114-171) | 152 (103-208) |
| 3692A > C | N1231T | 1 | 2 | 2 | 0 | 1.0 | 3.0 | 0.0 | 128 (87-187) | 137 (97-193) | 93 (72-119) | 140 (114-171) | 146 (103-208) |
| 4024C > T | R1342C | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 90 | 51 | 95 | 95 | 98 |
| 4751A > G | Y1584C | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 61 | 47 | 95 | 65 | 69 |
| 6187C > T | P2063S | 1 | 2 | 0 | 2 | 1.0 | 0.0 | 1.7 | 94 (74-119) | 84 (74-96) | 102 (75-138) | 114 (103-127) | 81 (65-102) |
| 6554G > A | R2185Q | 1 | 15 | 12 | 3 | 7.9 | 18.2 | 2.5 | 118 (69-231) | 120 (67-248) | 120 (89-198) | 113 (93-167) | 142 (96-265) |
| 6859C > T | R2287W | 1/2A | 2 | 2 | 0 | 1.0 | 3.0 | 0.0 | 103 (99-107) | 83 (71-98) | 124 (98-156) | 133 (128-138) | 116 (95-141) |
| 6938G > A | R2313H | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 173 | 220 | 162 | 184 | 227 |
| 7940C > T | T2647M | 1 | 1 | 1 | 0 | 0.5 | 1.5 | 0.0 | 83 | 114 | 97 | 90 | 120 |
The reported mutations were frequently identified in African Americans (AA). M701I, H817Q and R2185 were found in greater than 15% of African-American healthy controls. R854Q and P2063S were only seen in Whites (W). Laboratory values are reported as a log transformed average (range) if there is more than one individual. Slightly abnormal values were only seen for Y1584C (low VWF:RCo) and R1342C (low VWF:RCo/VWF:Ag).