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--
Good evening ;)
I agree with Alice, as usual you did very good work. The article contained several interesting points and was very comprehensible. Hiding the scripts in your journal in some outside source is indeed a good idea, to keep a better overview of the steps taken. We might adopt that in the future :) Here a few things I stumbled upon:
- I also don't understand the reason for the explanation of frameshifts in the dbSNP section. Since none of the 8 mutations you found describe one, what does it do there?
- You could have retrieved missense mutations from dbSNP as well
- 'Without deeper look, it can be said, that the results from OMIM and SNPedia are very similar, by simply comparing Figure 4 and Figure 3'. True they look very similar but to be overly picky from these plots alone you can only judge that there is a high correlation in numbers, the mutations themselves could be entirely different.
- I believe Alice means synonymous SNPs in the last section. You cannot assume that synonymous SNPs are always not disease-causing. A counter-example from TSD is this.
--jonas
