HGMD®

Statistics for missense mutations

Wild type G T A C Total
Guanine -- 4380 14020 4599 22999
Thymine 2952 -- 2100 6999 12051
Adenine 6057 1716 -- 2142 9915
Cytosine 3363 9497 2813 -- 15673

Statistics for nonsense mutations

Wild type	G	T	A	C	Total
Guanine	--	2109	2005	0	4114
Thymine	462	--	664	0	1126
Adenine	0	765	--	0	765
Cytosine	973	6795	1460	--	9228

Table for nonsense mutations

Amino acid substituted to termination codon	TAG	TGA	TAA	Total
Alanine (Ala)	0	0	0	0
Arginine (Arg)	0	3108	0	3108
Asparagine (Asn)	0	0	0	0
Aspartic acid (Asp)	0	0	0	0
Cysteine (Cys)	0	573	0	573
Glutamine (Gln)	2877	0	926	3803
Glutamate (Glu)	952	0	864	1816
Glycine (Gly)	0	294	0	294
Histidine (His)	0	0	0	0
Isoleucine (Ile)	0	0	0	0
Leucine (Leu)	125	175	116	416
Lycine (Lys)	341	0	307	648
Methionine (Met)	0	0	0	0
Phenylalanine (Phe)	0	0	0	0
Proline (Pro)	0	0	0	0
Serine (Ser)	224	430	270	924
Selenocysteine (Sec)	0	0	1	1
Threonine (Thr)	0	0	0	0
Tryptophan (Trp)	980	1025	0	2005
Tyrosine (Tyr)	830	0	816	1646
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