at the Institute of Medical Genetics in Cardiff
Copyright © Cardiff University 2011. All rights reserved
| The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff Copyright © Cardiff University 2011. All rights reserved | | |
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| Wild type | G | T | A | C | Total |
| Guanine | -- | 3889 | 12351 | 4056 | 20296 |
| Thymine | 2608 | -- | 1872 | 6223 | 10703 |
| Adenine | 5332 | 1510 | -- | 1877 | 8719 |
| Cytosine | 2947 | 8312 | 2475 | -- | 13734 |
| Wild type | G | T | A | C | Total |
| Guanine | -- | 1854 | 1765 | 0 | 3619 |
| Thymine | 413 | -- | 601 | 0 | 1014 |
| Adenine | 0 | 671 | -- | 0 | 671 |
| Cytosine | 859 | 6014 | 1271 | -- | 8144 |
| Amino acid substituted to termination codon | TAG | TGA | TAA | Total |
| Alanine (Ala) | 0 | 0 | 0 | 0 |
| Arginine (Arg) | 0 | 2728 | 0 | 2728 |
| Asparagine (Asn) | 0 | 0 | 0 | 0 |
| Aspartic acid (Asp) | 0 | 0 | 0 | 0 |
| Cysteine (Cys) | 0 | 506 | 0 | 506 |
| Glutamine (Gln) | 2544 | 0 | 841 | 3385 |
| Glutamate (Glu) | 835 | 0 | 759 | 1594 |
| Glycine (Gly) | 0 | 261 | 0 | 261 |
| Histidine (His) | 0 | 0 | 0 | 0 |
| Isoleucine (Ile) | 0 | 0 | 0 | 0 |
| Leucine (Leu) | 113 | 155 | 106 | 374 |
| Lycine (Lys) | 305 | 0 | 266 | 571 |
| Methionine (Met) | 0 | 0 | 0 | 0 |
| Phenylalanine (Phe) | 0 | 0 | 0 | 0 |
| Proline (Pro) | 0 | 0 | 0 | 0 |
| Serine (Ser) | 191 | 384 | 231 | 806 |
| Selenocysteine (Sec) | 0 | 0 | 1 | 1 |
| Threonine (Thr) | 0 | 0 | 0 | 0 |
| Tryptophan (Trp) | 867 | 898 | 0 | 1765 |
| Tyrosine (Tyr) | 733 | 0 | 725 | 1458 |
| 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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