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 -- 7154 23266 7528 37948
Thymine 4761 -- 3490 10911 19162
Adenine 10280 2931 -- 3545 16756
Cytosine 5647 16145 4622 -- 26414

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 3465 3088 0 6553
Thymine 732 -- 1080 0 1812
Adenine 0 1291 -- 0 1291
Cytosine 1591 10623 2361 -- 14575

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 4812 1 4813
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 909 0 909
Glutamine (Gln) 4563 0 1447 6010
Glutamate (Glu) 1564 0 1437 3001
Glycine (Gly) 0 465 0 465
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 199 280 188 667
Lycine (Lys) 577 0 513 1090
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 355 695 450 1500
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1515 1572 0 3087
Tyrosine (Tyr) 1348 0 1340 2688
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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