Identified Mutations, Geographical Origin, and Clinical Characteristics of F5F8D Patients
| Patient . | Origin (Consanguinity) . | Phenotype Factor V/VIII . | Mutation . | ERGIC-53 Protein . |
|---|---|---|---|---|
| A1 | Iran (C) | 13/14 | 912-913insA (cd 305) | ND |
| 912-913insA (cd 305) | ||||
| A2 | Iran (C) | 7/7 | 822G>A (IVS7 DS −1) | −* |
| 822G>A (IVS7 DS −1) | ||||
| A3 | Iran (C) | 14/13 | 912-913insA (cd 305) | ND |
| 89-90insG (cd 30) | ||||
| A4 | Iran (C) | 10/11 | IVS9 +2 T>G | ND |
| IVS9 +2 T>G | ||||
| A5 | Iran (C) | 5/10 | ? | ND |
| ? | ||||
| A6 | Iran (C) | 14/13 | 822G>A (IVS7 DS −1) | ND |
| 822G>A (IVS7 DS −1) | ||||
| A7 | Iran (C) | 7/7 | ? | ND |
| ? | ||||
| A8 | Iran (C) | 5/6 | 1214-1218delAAATG (cd 406) | ND |
| 1214-1218delAAATG (cd 406) | ||||
| A9 | Iran (C) | 18/8 | 822G>A (IVS7 DS −1) | ND |
| 822G>A (IVS7 DS −1) | ||||
| A10 | Iran (C) | 12/15 | 23delG (cd 8) | ND |
| 23delG (cd 8) | ||||
| A11 | Iran (C) | 18/17 | 89-90insG (cd 30) | ND |
| 89-90insG (cd 30) | ||||
| A12 | Iran (C) | 2.5/2.2 | 822G>A (IVS7 DS −1) | −* |
| 822G>A (IVS7 DS −1) | ||||
| A13 | Iran (C) | 4.6/5.5 | ? | ND |
| ? | ||||
| A14 | Iran | 10/6 | ? | ND |
| ? | ||||
| A16 | Iran | 9/13.5 | R202X (CGA>TGA) | ND |
| R202X (CGA>TGA) | ||||
| A17 | Iran (C) | 5/7.5 | R202X (CGA>TGA) | ND |
| R202X (CGA>TGA) | ||||
| A18 | Pakistan (C) | 10/15 | K302X (AAA>TAA) | −* |
| K302X (AAA>TAA) | ||||
| A19 | Pakistan (C) | 14/14 | R456X (CGA>TGA) | −* |
| R456X (CGA>TGA) | ||||
| A20 | Pakistan (C) | 8/6 | K302X (AAA>TAA) | −* |
| K302X (AAA>TAA) | ||||
| A21 | Italy | 10/11 | ? | +† |
| ? | ||||
| A22 | Italy | 8/24 | ? | −* |
| ? | ||||
| A24 | Italy | 17/26 | M1T (ATG>ACG) | ND |
| M1T (ATG>ACG) | ||||
| A25 | Italy | 9/10 | M1T (ATG>ACG) | −* |
| M1T (ATG>ACG) | ||||
| A26 | Pakistan (?) | 18/18 | K302X (AAA>TAA) | ND |
| K302X (AAA>TAA) | ||||
| A27 | China | 7/9 | R456X (CGA>TGA) | −* |
| R456X (CGA>TGA) | ||||
| A28 | UK | ? | ND | |
| ? | ||||
| A29 | South Africa | 11/22 | ? | +† |
| ? | ||||
| A30 | Pakistan (C) | 6/3 | K302X (AAA>TAA) | ND |
| K302X (AAA>TAA) | ||||
| A31 | Pakistan (C) | 14/18 | K302X (AAA>TAA) | ND |
| K302X (AAA>TAA) | ||||
| A33 | Italy | ? | ND | |
| ? | ||||
| A34 | Italy | 9/27 | IVS5 +1 G>T | ND |
| IVS5 +1 G>T | ||||
| IVS5 +1 G>T | ||||
| A36 | Italy | 1.4/2.7 | 1208-1209insT (cd 403) | ND |
| 1208-1209insT (cd 403) | ||||
| A37 | China (?) | 17/19 | R456X (CGA>TGA) | ND |
| R456X (CGA>TGA) | ||||
| B1 | Algeria C) | 31delG (cd 11) | ND | |
| 31delG (cd 11) |
| Patient . | Origin (Consanguinity) . | Phenotype Factor V/VIII . | Mutation . | ERGIC-53 Protein . |
|---|---|---|---|---|
| A1 | Iran (C) | 13/14 | 912-913insA (cd 305) | ND |
| 912-913insA (cd 305) | ||||
| A2 | Iran (C) | 7/7 | 822G>A (IVS7 DS −1) | −* |
| 822G>A (IVS7 DS −1) | ||||
| A3 | Iran (C) | 14/13 | 912-913insA (cd 305) | ND |
| 89-90insG (cd 30) | ||||
| A4 | Iran (C) | 10/11 | IVS9 +2 T>G | ND |
| IVS9 +2 T>G | ||||
| A5 | Iran (C) | 5/10 | ? | ND |
| ? | ||||
| A6 | Iran (C) | 14/13 | 822G>A (IVS7 DS −1) | ND |
| 822G>A (IVS7 DS −1) | ||||
| A7 | Iran (C) | 7/7 | ? | ND |
| ? | ||||
| A8 | Iran (C) | 5/6 | 1214-1218delAAATG (cd 406) | ND |
| 1214-1218delAAATG (cd 406) | ||||
| A9 | Iran (C) | 18/8 | 822G>A (IVS7 DS −1) | ND |
| 822G>A (IVS7 DS −1) | ||||
| A10 | Iran (C) | 12/15 | 23delG (cd 8) | ND |
| 23delG (cd 8) | ||||
| A11 | Iran (C) | 18/17 | 89-90insG (cd 30) | ND |
| 89-90insG (cd 30) | ||||
| A12 | Iran (C) | 2.5/2.2 | 822G>A (IVS7 DS −1) | −* |
| 822G>A (IVS7 DS −1) | ||||
| A13 | Iran (C) | 4.6/5.5 | ? | ND |
| ? | ||||
| A14 | Iran | 10/6 | ? | ND |
| ? | ||||
| A16 | Iran | 9/13.5 | R202X (CGA>TGA) | ND |
| R202X (CGA>TGA) | ||||
| A17 | Iran (C) | 5/7.5 | R202X (CGA>TGA) | ND |
| R202X (CGA>TGA) | ||||
| A18 | Pakistan (C) | 10/15 | K302X (AAA>TAA) | −* |
| K302X (AAA>TAA) | ||||
| A19 | Pakistan (C) | 14/14 | R456X (CGA>TGA) | −* |
| R456X (CGA>TGA) | ||||
| A20 | Pakistan (C) | 8/6 | K302X (AAA>TAA) | −* |
| K302X (AAA>TAA) | ||||
| A21 | Italy | 10/11 | ? | +† |
| ? | ||||
| A22 | Italy | 8/24 | ? | −* |
| ? | ||||
| A24 | Italy | 17/26 | M1T (ATG>ACG) | ND |
| M1T (ATG>ACG) | ||||
| A25 | Italy | 9/10 | M1T (ATG>ACG) | −* |
| M1T (ATG>ACG) | ||||
| A26 | Pakistan (?) | 18/18 | K302X (AAA>TAA) | ND |
| K302X (AAA>TAA) | ||||
| A27 | China | 7/9 | R456X (CGA>TGA) | −* |
| R456X (CGA>TGA) | ||||
| A28 | UK | ? | ND | |
| ? | ||||
| A29 | South Africa | 11/22 | ? | +† |
| ? | ||||
| A30 | Pakistan (C) | 6/3 | K302X (AAA>TAA) | ND |
| K302X (AAA>TAA) | ||||
| A31 | Pakistan (C) | 14/18 | K302X (AAA>TAA) | ND |
| K302X (AAA>TAA) | ||||
| A33 | Italy | ? | ND | |
| ? | ||||
| A34 | Italy | 9/27 | IVS5 +1 G>T | ND |
| IVS5 +1 G>T | ||||
| IVS5 +1 G>T | ||||
| A36 | Italy | 1.4/2.7 | 1208-1209insT (cd 403) | ND |
| 1208-1209insT (cd 403) | ||||
| A37 | China (?) | 17/19 | R456X (CGA>TGA) | ND |
| R456X (CGA>TGA) | ||||
| B1 | Algeria C) | 31delG (cd 11) | ND | |
| 31delG (cd 11) |