HGMD®

Statistics for missense mutations

Wild type	G	T	A	C	Total
Guanine	--				0
Thymine		--			0
Adenine			--		0
Cytosine				--	0

Statistics for nonsense mutations

Wild type	G	T	A	C	Total
Guanine	--				0
Thymine		--			0
Adenine			--		0
Cytosine				--	0

Table for nonsense mutations

Amino acid substituted to termination codon	TAG	TGA	TAA	Total
Alanine (Ala)	0	0	0	0
Arginine (Arg)	0	10497	1	10498
Asparagine (Asn)	0	0	0	0
Aspartic acid (Asp)	0	0	0	0
Cysteine (Cys)	0	1866	0	1866
Glutamine (Gln)	9622	0	2986	12608
Glutamate (Glu)	3410	0	2983	6393
Glycine (Gly)	0	1089	0	1089
Histidine (His)	0	0	0	0
Isoleucine (Ile)	0	0	0	0
Leucine (Leu)	471	590	392	1453
Lycine (Lys)	1278	0	1037	2315
Methionine (Met)	0	0	0	0
Phenylalanine (Phe)	0	0	0	0
Proline (Pro)	0	0	0	0
Serine (Ser)	734	1506	930	3170
Selenocysteine (Sec)	0	0	1	1
Threonine (Thr)	0	0	0	0
Tryptophan (Trp)	3096	3141	0	6237
Tyrosine (Tyr)	2813	0	2749	5562
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