Total number of alleles (records) in CBS allele database: 924
Total number of mutations in CBS allele database: 164
Number of alleles with missense mutation in database: 790 Number of alleles with deletions in database: 77 Number of alleles with insertions in database: 9 Number of alleles with splicing mutations in database: 12 Number of alleles with nonsense mutations in database: 30 Number of alleles with other type of mutations in database: 6
The most frequent mutations are: I278T = 153
T191M = 149
G307S = 88
R336C = 83
del ex 12 = 25
W323X = 20
D444N = 17
R125Q = 14
E144K = 12
T353M = 12
A114V = 10
R266K = 10
T262M = 10
fs, stop at aa 540 = 10
Retrieved from the database: 25/02/2021, 10:21 PM Last modified: November 22 2011 08:50:28.