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:	25	21	80	28	142	22	36	249	27	33	35	33	3	1	0	16	1
Number of mutations:	12	9	21	13	4	11	13	10	9	15	10	13	2	1	0	9	1

Total number of alleles (records) in CBS allele database: 753

Total number of mutations in CBS allele database: 153

Number of alleles with missense mutation in database: 654
Number of alleles with deletions in database: 51
Number of alleles with insertions in database: 9
Number of alleles with splicing mutations in database: 18
Number of alleles with nonsense mutations in database: 10
Number of alleles with other type of mutations in database: 10

The most frequent mutations are:
I278T = 144
T191M = 137
G307S = 88
del ex 12 = 19
D444N = 13
R125Q = 13
E144K = 12
R266K = 10
T262M = 10
A114V = 10

Retrieved from the database: 19/03/2010, 04:19 AM
Last modified: February 07 2010 17:53:51.