HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

QIAGEN
Symbol:

Statistics for missense mutations

Wild type G T A C Total
Guanine -- 10807 36290 11295 58392
Thymine 6980 -- 5103 15829 27912
Adenine 16701 4540 -- 5575 26816
Cytosine 8768 26084 7073 -- 41925

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 5082 4279 0 9361
Thymine 1064 -- 1575 0 2639
Adenine 0 1898 -- 0 1898
Cytosine 2349 15232 3380 -- 20961

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 6935 1 6936
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 1313 0 1313
Glutamine (Gln) 6532 0 2061 8593
Glutamate (Glu) 2286 0 2078 4364
Glycine (Gly) 0 719 0 719
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 310 413 275 998
Lycine (Lys) 868 0 732 1600
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 503 1035 655 2193
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 2140 2138 0 4278
Tyrosine (Tyr) 1965 0 1899 3864
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


Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2020