CBS MUTATION DATABASE

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CBS allele database statistics



Exon number:1234567891011121314151617
Number of mutated alleles: 272383351573041263128373538310211
Number of mutations: 11922166131411111591321091


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: 23/11/2017, 05:23 PM
Last modified: November 22 2011 08:50:28.


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