Mutation | Location | Domain | Protein | Hom/Het | Phenotype/grading systema | Ethnicity | Reference |
---|---|---|---|---|---|---|---|
1) c.2 T > G | Exon 1 | Signal peptide | p.M1R | Hom | ISH/3 | Dominican Republican | Antaya et al. [75] |
2) c.116G > T | Exon 1 | vWFA | p.C39F | Het | ISH/2 (patient1) | N.D. | Deuquet et al. [18] |
3) c.134 T > C | Exon 1 | vWFA | p.L45P | Hom | ISH/3 (family R) | Bedouin | Hanks et al. [15] |
Hom | ISH/4 | Saudi | Mohamed et al. [61] | ||||
4) c.148G > A | Exon 1 | vWFA | p.D50N | Hom | ISH/? | N.D. | Deuquet et al. [19] |
5) c.225- 4G > A | Intron 2 | vWFA | Presumed splice defect | Hom | ISH/3 | Indian | Fong et al. [76] |
6) c.277_278insATTATTT | Exon3 | vWFA | p.L93Yfsa14 | Hom | ISH/3 | Indian | Koonuru and Venugopal [77] |
Indian | Aggarwal et al. [78] | ||||||
7) c.304_305insA | Exon 4 | vWFA | p.I102Nfsa12 | Het | ISH/3 | Chinese | Huang et al. [79] |
8) c.314G > A | Exon 4 | vWFA | p.G105D | Hom | JHF/3 (family JHF1) | Turkish | Dowling et al. [14] |
9) c.347G > T | Exon 4 | vWFA | p.G116V | Hom | ISH/3 | Turkish | Tümer et al. [64] |
Hom | JHF/2 (patients VI-4, VI-5, VI-10 et V-15) ISH/3 patient VI-3 | Lebanese | This report | ||||
10) c.353C > A | Exon 4 | vWFA | p.T118K | Hom | ISH/4 | Mexican | Lindvall et al. [80] |
11) c.487-2A > G | Intron 5 | vWFA | p.A163_Q185del; p.A163_K164del | Het | ISH/3 (Patient 5) | Brazilian | Denadai et al. [22] |
12) c.495_496insA | Exon6 | vWFA | p.S166Ifsa7 | Hom | ISH/3 (family N and O) | Moroccan and Pakistani | Hanks et al. [15] |
13) c.566 T > C | Exon 7 | vWFA | p.I189T | Het | ISH/2 (family ISH2) | Swiss | Dowling et al. [14] |
Het | ISH/3 (family L) | European/Swiss | Hanks et al. [15] | ||||
14) c.652 T > C | Exon 8 | vWFA | p.C218R | Hom | ISH/3 (family K) | Fijian/East Indian | Hanks et al. [15] |
15) c.658G > T | Exon 8 | vWFA | p.E220X | Hom | ISH/4 (family ISH1) | Turkish | Dowling et al. [14] |
16) c.697 + 1dupG | Intron 8 | Ig-like domain | G232insG | Het | ISH/? | N.D. | Deuquet et al. [19] |
17) c.697 + 1 G > A | Intron 8 | Ig-like domain | Presumed splice defect | Het | ISH/3 (family I) | European/Canadian | Hanks et al. [15] |
18) c.796 + 2 T > C | Intron 9 | Ig-like domain | Presumed splice defect | Het | JHF/2 (family E)¥ | European | Hanks et al. [15] |
19) c.867_945del | Exon 11 | Ig-like domain | p.E289Dfsa22 | Hom | ISH/4 | Omani | Al Sinani et al. [81] |
20) c.876_877insCAA | Exon 11 | Ig-like domain | p.D292_VinsQ | Hom | JHF/2 (family G) | East Turkish | Hanks et al. [15] |
21) c.928G > T | Exon 11 | Ig-like domain | p.V310F | Het | ISH/2 (patient2) | N.D. | Deuquet et al. [18] |
22) c.945 T > G | Exon 11 | Ig-like domain | p.C315W | Hom | ISH/4 (patient 3) | N.D. | Deuquet et al. [18] |
c.946-2A > G | Intron11 | Ig-like domain | Presumed splice defect | Hom | ISH/4 (patient 1) | Iranian | Youssefian et al. [82] |
23) N.D. | Exon11/12 | Ig-like domain- Transmembrane | Presumed deletion | Hom | ISH/? | N.D. | Deuquet et al. [19] |
24) c.986 T > G | Exon 12 | Transmembrane | p.L329R | Hom | JHF/1 (family JHF2) | African American | Dowling et al. [14] |
25) c.1073_1074insC | Exon 13 | Cytoplasmic | p.A359Cfsa13 | Het | ISH/2 (family ISH2) | Swiss | Dowling et al. [14] |
26) c.1073_1074insC | Exon 13 | Cytoplasmic | p.A359Cfsa13 | Het | ISH/3 | N.D. | Rahvar et al. [83] |
Het | ISH/3 (family J)Â¥ | Chinese | Hanks et al. [15] | ||||
Het | ISH/3 (family M)¥ | Puerto Rican + African American | Hanks et al. [15] | ||||
Hom | ISH/3 (family P) | United States, Hispanic | Hanks et al. [15] | ||||
Hom | ISH/3 | Taiwanese | Lee et al. [60] | ||||
Hom | ISH/4 (patient 1) | Mexican | Shieh et al. [84] | ||||
Het | ISH/3 (patient 3) | ||||||
Het | ISH/4 (patient 4) | Brazilian | Denadai et al.[22] | ||||
Het | ISH/2 (patient 2) | N.D. | Deuquet et al. [18] | ||||
Hom | ISH/3 (patient4) | N.D. | Deuquet et al. [18] | ||||
Het | ISH/3 | Japanese | Sugiura et al. [85] | ||||
Hom | ISH/2 | North Indian | Narayanan and Phadke, [58] | ||||
Hom | ISH/3 (patient 2) | Iranian | Youssefian et al. [82] | ||||
27) c.1073_1074insCC | Exon 13 | Cytoplasmic | p.A359Lfsa51 | Het | ISH/3 (family L) | European/Swiss | Hanks et al. [15] |
28) c.1074delT | Exon 13 | Cytoplasmic | p.A359Hfsa50 | Hom | ISH/3 (family Q) | Kuwaiti | Hanks et al. [15] |
Hom | ISH/3 | Iranian | Vahidnezhad et al. [86] | ||||
Het | ISH/3 | Chinese | Huang et al. [79] | ||||
Het | ISH/3 | Japanese | Hatamochi et al. [39] | ||||
Hom | ISH/4 (family 1) | Egyptian | El-Kamah et al. [87] | ||||
Hom | ISH/2 | Moroccan | Jaouad et al. [9] | ||||
Het | ISH/3 (patient 2 and 5) | Brazilian | Denadai et al. [22] | ||||
Het | ISH/2 (patient3) | Brazilian | Denadai et al. [22] | ||||
Het | ISH/4 (patient4) | Brazilian | Denadai et al. [22] | ||||
Het | ISH/2 (patient1) | N.D. | Deuquet et al. [18] | ||||
Hom | ISH/4 (family1) | Egyptian | El Kamah et al. [87] | ||||
Hom | ISH/2 (patient3) | Iranian | Youssefian et al. [82] | ||||
29) c.1075insT | Exon 13 | Cytoplasmic | p.A359Vfsa13 | Het | ISH/? | N.D. | Deuquet et al. [19] |
30) c.1086 + 1G > A | Intron13 | Cytoplasmic | p.V394Ifsa6 | Hom | JHF/2 (families C and F) | Turkish/European | Hanks et al. [15] |
31) c.1087_1706del∞ | Intron 13-17 | Cytoplasmic | Presumed deletion | Hom | ISH/4 (patient 2) | Mexican | Shieh et al. [84] |
32) c.1142A > G | Exon 14 | Cytoplasmic | p.Y381C | Hom | JHF/1 (family D) | Moroccan | Hanks et al. [15] |
Hom | ISH/3 | Moroccan | Mallet et al. [88] | ||||
33) c.1150C > T | Exon 14 | Cytoplasmic | p.R384X | Het | ISH/3 (family I) | European/Canadian | Hanks et al. [15] |
34) c.1156G > T | Exon 14 | Cytoplasmic | p.V386F | Hom | JHF/2 | Turkish | Hakki et al. [72] |
35) c.1179G > A | Exon 14 | Cytoplasmic | p.E363_E393del | Hom | JHF/2 (families A and B) | Indian | Hanks et al. [15] |
36) c.1179 + 1 G > A | Intron 14 | Cytoplasmic | Presumed splice defect | Hom | ISH/3 | Chinese | Wang et al. [89] |
37) c.1179 + 5G > T | Intron 14 | Cytoplasmic | Presumed splice defect | Hom | JHF/2 (family H) | Turkish | Hanks et al. [15] |
38) c.1180_1428del | Introns 14–16 | Cytoplasmic | p.V394_E476del | Het | ISH/3 (patient 2) ISH/2 (patient3) | Brazilian | Denadai et al. [22] |
39) c.1181 T > C | Exon 14 | Cytoplasmic | p.V394A | Het | ISH/3 | Japanese | Hatamochi et al. [39] |
40) c.1294C > T | Exon 15 | Cytoplasmic | p.R432X | Het | ISH/3 (patient 3) | Mexican | Shieh et al. [84] |
Het | ISH/3 | N.D. | Rahvar et al. [83] | ||||
Het | ISH/3 | Japanese | Sugiura et al. [85] | ||||
41) c.1340delC | Exon 15 | Cytoplasmic | p.P447Qfsa13 | Hom | JHF/2 (family 2) | Egyptian | El-Kamah et al. [87] |