CBS allele database statistics

Exon number:	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17
Number of mutated alleles:	27	23	83	35	157	30	41	263	128	37	35	38	3	1	0	21	1
Number of mutations:	11	9	22	16	6	13	14	11	11	15	9	13	2	1	0	9	1

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: 19/09/2019, 09:31 AM
Last modified: November 22 2011 08:50:28.