Talk:Fabry:Mapping point mutations

Hey guys,
I really like all your pages and I absolutely adore the organisation of your journal. As always you have provided many informative graphics and visualisations to illuminate your results.
It is striking that for your protein the most results come from HGMD. In our case it was relatively equally distributed. I also find it interesting that you have a lot of positions where many different mutants are present (up to five), have I understood that correctly?
In the dbSNP section there is an insertion-deletion explanation that seems a bit lost to me. Further on in the snpdbe section you separate the disease and non disease mutations. What you might want to consider is that a non-disease annotated SNP within snpdbe might be validated within HGMD as disease causing....on the other hand a nonsynonymous mutation from dbSNP can be disease causing by disrupting the mRNA processing or things like these.
(Somewhere I found one spelling mistake "desease")

--Alice--