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 -- 11848 40679 12286 64813
Thymine 7546 -- 5519 17201 30266
Adenine 18541 4949 -- 6138 29628
Cytosine 9688 29885 7880 -- 47453

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 5438 4562 0 10000
Thymine 1129 -- 1688 0 2817
Adenine 0 2033 -- 0 2033
Cytosine 2514 16348 3623 -- 22485

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 7472 1 7473
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 1397 0 1397
Glutamine (Gln) 6992 0 2200 9192
Glutamate (Glu) 2454 0 2210 4664
Glycine (Gly) 0 775 0 775
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 342 439 295 1076
Lycine (Lys) 930 0 785 1715
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 546 1103 692 2341
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 2289 2272 0 4561
Tyrosine (Tyr) 2101 0 2039 4140
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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