F XI Deficiency Mutation Database©
Database Stats
Percentage of mutations with specific mutation type
| Mutations | Percentage | ||
|---|---|---|---|
| Undefined |  |
1 | 0% |
| Deletion | |
13 | 6% |
| Insertion | |
7 | 3% |
| Missense | |
126 | 57% |
| Nonsense | |
26 | 12% |
| Polymorphism | |
28 | 13% |
| Promoter Region | |
1 | 0% |
| Splice Site | |
18 | 8% |
Percentage of mutations and polymorphisms within each domain
| Mutations | Percentage | ||
|---|---|---|---|
| Apple 1 | |
36 | 16% |
| Apple 2 | |
19 | 9% |
| Apple 3 | |
30 | 14% |
| Apple 4 | |
32 | 15% |
| Introgenic Region | |
29 | 13% |
| Linker Region | |
2 | 1% |
| Signal Peptide | |
2 | 1% |
| SP | |
70 | 32% |
Percentage of disease causing mutations with specific phenotype
| Mutations | Percentage | ||
|---|---|---|---|
| I | |
95 | 43% |
| II | |
12 | 5% |
| None | |
23 | 10% |
| Undefined | |
90 | 41% |
Percentage of patients from different regions
| Mutations | Percentage | ||
|---|---|---|---|
| Undefined | |
164 | 34% |
| African | |
2 | 0% |
| African American | |
2 | 0% |
| Arab | |
3 | 1% |
| Ashkenazi Jewish | |
10 | 2% |
| Australian | |
3 | 1% |
| Austrian | |
5 | 1% |
| Bedouin | |
7 | 1% |
| Belgic | |
1 | 0% |
| Bucharian-Jewish | |
1 | 0% |
| Caucasian | |
4 | 1% |
| Chinese | |
14 | 3% |
| Czech | |
6 | 1% |
| English | |
6 | 1% |
| English/Irish | |
1 | 0% |
| European | |
1 | 0% |
| French | |
27 | 6% |
| French Basque | |
14 | 3% |
| French Basque/Jewish | |
1 | 0% |
| French Basque/Non Basque | |
1 | 0% |
| German | |
1 | 0% |
| Hispanic | |
1 | 0% |
| Indian | |
3 | 1% |
| Iranian | |
15 | 3% |
| Irish | |
2 | 0% |
| Israeli Arab | |
1 | 0% |
| Italian | |
40 | 8% |
| Italian and Czechoslovakian | |
1 | 0% |
| Japanese | |
33 | 7% |
| Jewish | |
6 | 1% |
| Lebanese | |
9 | 2% |
| Moroccan | |
1 | 0% |
| Morrocan | |
1 | 0% |
| Nantes | |
7 | 1% |
| Non-Ashkenazi Jewish | |
2 | 0% |
| Non-Jewish | |
10 | 2% |
| North European Caucasian | |
1 | 0% |
| Portgugese | |
1 | 0% |
| Portugese | |
1 | 0% |
| Portuguese | |
13 | 3% |
| Scottish | |
1 | 0% |
| Scottish/English | |
1 | 0% |
| Tunisian | |
2 | 0% |
| UK population | |
58 | 12% |
| US | |
2 | 0% |
| Yemenite Jewish | |
1 | 0% |
Coverage of patients records with data for each field
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Data on Ethnic Origin | | 323 | 66% |
| Data for Age/Sex | | 293 | 60% |
| Data for Bleeding Symptoms | | 267 | 55% |
| Data for Genotype | | 460 | 94% |
| Data for FXI:Ag | | 177 | 36% |
| Data for FXI:C | | 451 | 93% |
| All data fields complete | | 84 | 17% |
| Total Records | | 487 | 100% |