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 -- 6942 22618 7318 36878
Thymine 4628 -- 3396 10617 18641
Adenine 9950 2846 -- 3438 16234
Cytosine 5486 15652 4490 -- 25628

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 3330 3005 0 6335
Thymine 707 -- 1041 0 1748
Adenine 0 1243 -- 0 1243
Cytosine 1546 10355 2293 -- 14194

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 4696 1 4697
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 877 0 877
Glutamine (Gln) 4441 0 1409 5850
Glutamate (Glu) 1519 0 1365 2884
Glycine (Gly) 0 447 0 447
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 192 273 181 646
Lycine (Lys) 555 0 495 1050
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 348 676 439 1463
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1477 1527 0 3004
Tyrosine (Tyr) 1304 0 1297 2601
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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