Mutations in the vWF-A1 and vWF-A2 Domains of vWF Giving Rise to vWD
| vWD Type . | Mutation Site in Mature Polypeptide . | Database Notation* . | Location of Mutation in Model (Fig 3) . | Reference . |
|---|---|---|---|---|
| vWF-A1 domain | ||||
| 2B | 540insM | In A1 | 11 | |
| 2B | R543W | R1306W/Q/C | In A1 | 11 |
| 2B | R545C | R1308C/P | Between A1 and BB | 11 |
| 2B | W550C | W1313C | Between A1 and BB | 11 |
| 2B | V551L/F | V1314L/F | In BB | 11, 14, 15 |
| 2B | V553M | V1316M | In BB | 11 |
| 2B | P574L | P1337L | Between A2 and A3 | 11 |
| 2B | R578Q | R1341Q/P | In A3 | 11 |
| 2M | G561S | G1324S | Between BB and BC | 16 |
| 2M | R611H/C | Between A4 and BD | 17 | |
| 2M | K645del | K1408del | Between A5 and BE | 18 |
| 2M | R629-Q639del | Between BD and into A5 | 19 | |
| vWF-A2 domain | ||||
| 2A | G742E/R | G1505E/R | Between BA and A1 | 11 |
| 2A | S743L | S1506L | Between BA and A1 | 11 |
| 2A | F751C | F1514C | In A1 | 11 |
| 2A | L777P | L1540P | In BB | 11 |
| 2A | L799P | L1562P | In A3 | 11 |
| 2A | L817P | L1580P | In A4 | 21 |
| 2A | R834W/Q | R1597W/Q/G | Between A4 and BD | 11 |
| 2A | V844D | V1607D | Between BD and A5 | 11 |
| 2A | G846R | G1609R | Between BD and A5 | 22 |
| 2A | S850P | S1613P | Between BD and A5 | 11 |
| 2A | I865T | I1628T | In BE | 11 |
| 2A | E875K | E1638K | In A6 | 11 |
| 2A | P885S | P1648S | In BF | 23 |
| 2A | V902E | V1665E | Post A7 | 22 |
| vWD Type . | Mutation Site in Mature Polypeptide . | Database Notation* . | Location of Mutation in Model (Fig 3) . | Reference . |
|---|---|---|---|---|
| vWF-A1 domain | ||||
| 2B | 540insM | In A1 | 11 | |
| 2B | R543W | R1306W/Q/C | In A1 | 11 |
| 2B | R545C | R1308C/P | Between A1 and BB | 11 |
| 2B | W550C | W1313C | Between A1 and BB | 11 |
| 2B | V551L/F | V1314L/F | In BB | 11, 14, 15 |
| 2B | V553M | V1316M | In BB | 11 |
| 2B | P574L | P1337L | Between A2 and A3 | 11 |
| 2B | R578Q | R1341Q/P | In A3 | 11 |
| 2M | G561S | G1324S | Between BB and BC | 16 |
| 2M | R611H/C | Between A4 and BD | 17 | |
| 2M | K645del | K1408del | Between A5 and BE | 18 |
| 2M | R629-Q639del | Between BD and into A5 | 19 | |
| vWF-A2 domain | ||||
| 2A | G742E/R | G1505E/R | Between BA and A1 | 11 |
| 2A | S743L | S1506L | Between BA and A1 | 11 |
| 2A | F751C | F1514C | In A1 | 11 |
| 2A | L777P | L1540P | In BB | 11 |
| 2A | L799P | L1562P | In A3 | 11 |
| 2A | L817P | L1580P | In A4 | 21 |
| 2A | R834W/Q | R1597W/Q/G | Between A4 and BD | 11 |
| 2A | V844D | V1607D | Between BD and A5 | 11 |
| 2A | G846R | G1609R | Between BD and A5 | 22 |
| 2A | S850P | S1613P | Between BD and A5 | 11 |
| 2A | I865T | I1628T | In BE | 11 |
| 2A | E875K | E1638K | In A6 | 11 |
| 2A | P885S | P1648S | In BF | 23 |
| 2A | V902E | V1665E | Post A7 | 22 |
*Database at http://mmg2im.med.umich.edu/vWF/mut-list.cgi. Subtract 763 to obtain the mature polypeptide residue number.