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 -- 6755 21948 7128 35831
Thymine 4516 -- 3289 10368 18173
Adenine 9639 2763 -- 3328 15730
Cytosine 5322 15093 4356 -- 24771

Statistics for nonsense mutations

Wild type G T A C Total
Guanine -- 3234 2932 0 6166
Thymine 693 -- 1014 0 1707
Adenine 0 1207 -- 0 1207
Cytosine 1496 10047 2232 -- 13775

Table for nonsense mutations

Amino acid substituted to termination codonTAGTGATAATotal
Alanine (Ala) 0 0 0 0
Arginine (Arg) 0 4541 1 4542
Asparagine (Asn) 0 0 0 0
Aspartic acid (Asp) 0 0 0 0
Cysteine (Cys) 0 850 0 850
Glutamine (Gln) 4320 0 1369 5689
Glutamate (Glu) 1476 0 1322 2798
Glycine (Gly) 0 437 0 437
Histidine (His) 0 0 0 0
Isoleucine (Ile) 0 0 0 0
Leucine (Leu) 186 267 178 631
Lycine (Lys) 540 0 482 1022
Methionine (Met) 0 0 0 0
Phenylalanine (Phe) 0 0 0 0
Proline (Pro) 0 0 0 0
Serine (Ser) 342 655 424 1421
Selenocysteine (Sec) 0 0 1 1
Threonine (Thr) 0 0 0 0
Tryptophan (Trp) 1445 1486 0 2931
Tyrosine (Tyr) 1267 0 1266 2533
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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