Mutation databases

Eivind Hovig ehovig at radium.uio.no
Tue Mar 9 09:41:58 EST 1993

What are the possibilities for keeping record of mutations in a given gene
or some arbitrary sequence?

I am writing this, because I have been keeping track of human TP53
mutations (the p53 protein) from the litterature (170 references). The
number of mutations is now approaching 1500 (of course, many more are
sequenced and not published, and a lot of what is published is missed).
With all details and references, this is getting to be a considerable base.
Of course, TP53 is a bit special, as the number of mutations in cancer is
so high, but I suspect similar situations will pop up for other sequences
as well. A case in point is the HPRT gene, where a mutation database is
being kept as an international effort.

Originally, I actually used the commercial package "The Gene Construction
Kit" on the Mac for this, as most of the features necessary are there
already. However, because of slow screen redraw, I switched to a standard
database (Omnis5).  I know other people are doing the same sort of thing,
even using things like Excel. I would like to explore the option of making
my base public, and what DNA software that could handle such a thing. (Like
for instance, a connection from GDB ("give me a locus, then give me the

Are such programs already available? How could updating be performed?

Eivind Hovig PhD  email= ehovig at radium.uio.no    Dept. of Tumor Biology
G=EHOVIG; OU=radium;  O=uio; ADMD= ; PRMD=no;    Inst. for Cancer Research
Phone:-47-22506050 ext. 9343                     The Norwegian Radium
Fax: -47-22522421                                0310 Oslo, Norway

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