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 -- 8113 26988 8539 43640
Thymine 5374 -- 3923 12274 21571
Adenine 12044 3368 -- 4110 19522
Cytosine 6496 18810 5304 -- 30610

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 3959 3405 0 7364
Thymine 847 -- 1250 0 2097
Adenine 0 1487 -- 0 1487
Cytosine 1841 12075 2661 -- 16577

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 5521 1 5522
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 1033 0 1033
Glutamine (Gln) 5152 0 1639 6791
Glutamate (Glu) 1788 0 1639 3427
Glycine (Gly) 0 533 0 533
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 235 325 221 781
Lycine (Lys) 667 0 581 1248
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 381 807 522 1710
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1687 1717 0 3404
Tyrosine (Tyr) 1556 0 1519 3075
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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