Nature of mutations in antithrombin deficiency
|
|
Distinct mutations |
Total database entries |
|
Missense mutation |
60 (35) |
171 (143) |
|
Nonsense mutation |
8 (0) |
19 (0) |
|
Inframe deletion |
7 (0) |
10 (0) |
|
Frameshift deletion |
20 (0) |
20 (0) |
|
Frameshift insertion |
11 (0) |
13 (0) |
|
Splice site mutation |
7 (0) |
9 (0) |
|
Major gene deletion |
12 (0) |
12 (0) |
|
Frameshift deletion/Frameshift insertion |
1 (0) |
1 (0) |
|
Inframe deletion/insertion |
1 (0) |
1 (0) |
|
|
|
|
|
Totals |
127 (35) |
256 (143) |
"Distinct mutations" do not include those repeated mutations that may have arisen independently
The entries are of total numbers in the database, while those in brackets refer to type II deficiency mutations.
