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 MutationsPercentage
Data on Ethnic Origin32366%
Data for Age/Sex29360%
Data for Bleeding Symptoms26755%
Data for Genotype46094%
Data for FXI:Ag17736%
Data for FXI:C45193%
All data fields complete8417%
Total Records487100%