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 -- 10210 34248 10685 55143
Thymine 6657 -- 4825 15126 26608
Adenine 15770 4303 -- 5302 25375
Cytosine 8266 24373 6669 -- 39308

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 4845 4103 0 8948
Thymine 1018 -- 1501 0 2519
Adenine 0 1816 -- 0 1816
Cytosine 2253 14574 3228 -- 20055

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 6628 1 6629
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 1261 0 1261
Glutamine (Gln) 6263 0 1964 8227
Glutamate (Glu) 2177 0 1989 4166
Glycine (Gly) 0 680 0 680
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 292 388 260 940
Lycine (Lys) 830 0 703 1533
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 473 985 631 2089
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 2048 2054 0 4102
Tyrosine (Tyr) 1898 0 1812 3710
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


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