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 -- 7845 25985 8256 42086
Thymine 5204 -- 3790 11852 20846
Adenine 11520 3238 -- 3927 18685
Cytosine 6236 18050 5087 -- 29373

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 3767 3308 0 7075
Thymine 812 -- 1178 0 1990
Adenine 0 1406 -- 0 1406
Cytosine 1752 11566 2575 -- 15893

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 5259 1 5260
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 991 0 991
Glutamine (Gln) 4961 0 1569 6530
Glutamate (Glu) 1701 0 1560 3261
Glycine (Gly) 0 507 0 507
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 217 310 207 734
Lycine (Lys) 628 0 553 1181
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 377 761 491 1629
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1632 1675 0 3307
Tyrosine (Tyr) 1493 0 1470 2963
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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