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 -- 7298 23845 7684 38827
Thymine 4845 -- 3542 11094 19481
Adenine 10515 2985 -- 3625 17125
Cytosine 5772 16500 4733 -- 27005

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 3539 3127 0 6666
Thymine 750 -- 1103 0 1853
Adenine 0 1329 -- 0 1329
Cytosine 1627 10864 2423 -- 14914

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 4920 1 4921
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 928 0 928
Glutamine (Gln) 4664 0 1486 6150
Glutamate (Glu) 1600 0 1464 3064
Glycine (Gly) 0 476 0 476
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 204 286 190 680
Lycine (Lys) 594 0 527 1121
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 361 711 464 1536
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1537 1589 0 3126
Tyrosine (Tyr) 1380 0 1379 2759
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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