|
HFI Laboratory
at |
HFI Allele Database Statistics
|
Exon Number: |
5'-flanking |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
9 |
IVS Number |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
3'-flanking |
|
Number of
Mutated Alleles: |
2 |
0 |
5 |
25 |
37 |
743 |
9 |
9 |
10 |
61 |
|
3 |
1 |
2 |
1 |
2 |
3 |
2 |
1 |
0 |
|
Number of
Mutations: |
1 |
0 |
3 |
5 |
4 |
6 |
5 |
4 |
5 |
3 |
|
1 |
1 |
2 |
0 |
1 |
2 |
1 |
1 |
0 |
Total number of alleles (records) in HFI allele database: 1058
Total number of mutations in HFI allele database: 45
Number of mutations with missense mutation in database: 17
Number of mutations with nonsense mutations in database: 7
Number of mutations with deletions in database: 9
Number of mutations with splicing mutations in database: 9
Number of mutations with insertions in database: 1
Number of mutations with micro-indels in database: 1
Number of promoter mutations in database: 1
The most frequent mutations are (% of total):
A149P = 601 (57%)
A174D = 137 (13%)
N334K = 50 (5%)
D4E4 = 37 (3%)
R59Op = 19 (2%)
L256P = 6 (1%)
A337V = 10 (1%)
Other = 77 (7%)
Unknown = 121 (11%)
For the geographical distribution of alleles as of 2009 see table.