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 -- 13610 46459 14054 74123
Thymine 8620 -- 6327 19582 34529
Adenine 21497 5735 -- 7141 34373
Cytosine 11214 34301 9157 -- 54672

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 6672 5634 0 12306
Thymine 1364 -- 2038 0 3402
Adenine 0 2459 -- 0 2459
Cytosine 3070 20108 4344 -- 27522

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 9302 1 9303
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 1689 0 1689
Glutamine (Gln) 8524 0 2671 11195
Glutamate (Glu) 3028 0 2679 5707
Glycine (Gly) 0 966 0 966
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 419 527 349 1295
Lycine (Lys) 1137 0 931 2068
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 649 1356 826 2831
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 2793 2840 0 5633
Tyrosine (Tyr) 2551 0 2450 5001
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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