HGMD®

Statistics for missense mutations

Wild type	G	T	A	C	Total
Guanine	--	13610	46459	14054	74123
Thymine	8620	--	6327	19582	34529
Adenine	21497	5735	--	7141	34373
Cytosine	11214	34301	9157	--	54672

Statistics for nonsense mutations

Wild type	G	T	A	C	Total
Guanine	--	6672	5634	0	12306
Thymine	1364	--	2038	0	3402
Adenine	0	2459	--	0	2459
Cytosine	3070	20108	4344	--	27522

Table for nonsense mutations

Amino acid substituted to termination codon	TAG	TGA	TAA	Total
Alanine (Ala)	0	0	0	0
Arginine (Arg)	0	9302	1	9303
Asparagine (Asn)	0	0	0	0
Aspartic acid (Asp)	0	0	0	0
Cysteine (Cys)	0	1689	0	1689
Glutamine (Gln)	8524	0	2671	11195
Glutamate (Glu)	3028	0	2679	5707
Glycine (Gly)	0	966	0	966
Histidine (His)	0	0	0	0
Isoleucine (Ile)	0	0	0	0
Leucine (Leu)	419	527	349	1295
Lycine (Lys)	1137	0	931	2068
Methionine (Met)	0	0	0	0
Phenylalanine (Phe)	0	0	0	0
Proline (Pro)	0	0	0	0
Serine (Ser)	649	1356	826	2831
Selenocysteine (Sec)	0	0	1	1
Threonine (Thr)	0	0	0	0
Tryptophan (Trp)	2793	2840	0	5633
Tyrosine (Tyr)	2551	0	2450	5001
Valine (Val)	0	0	0	0

We ask our users to note that this dataset does not represent mutation rates in absolute terms. All base substitutions recorded in HGMD are from mutations brought to clinical attention because they are disease causing. A method of compensating for this bias has been devised, and details can be found in Krawczak et al Am J Hum Genet 63:474-488, 1998. The results of the meta-analysis of single base-pair substitutions described in this paper are also available