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 -- 8412 28084 8846 45342
Thymine 5521 -- 4038 12639 22198
Adenine 12627 3496 -- 4300 20423
Cytosine 6768 19631 5501 -- 31900

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 4046 3483 0 7529
Thymine 853 -- 1281 0 2134
Adenine 0 1516 -- 0 1516
Cytosine 1885 12346 2710 -- 16941

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 5646 1 5647
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 1060 0 1060
Glutamine (Gln) 5258 0 1684 6942
Glutamate (Glu) 1823 0 1673 3496
Glycine (Gly) 0 551 0 551
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 239 325 225 789
Lycine (Lys) 682 0 590 1272
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 390 822 528 1740
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1721 1761 0 3482
Tyrosine (Tyr) 1591 0 1549 3140
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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