Talk:Canavan Task 6 - Sequence-based mutation analysis

Feedback:

I've read your wiki up to and including R71K as you seem to be still working on the rest. So far I liked your wiki very much. You write the important details without too much "gibberish". The two tables in the beginning (mutations and phys.chem.properties) are also very clear. It's also a nice variety that you have a section for each mutation and not (like us^^) one for each analysis method. Though sometimes you are a bit repetitive (e.g. lowest scores/probabilities in the matrices). --Bernhoferm 16:57, 18 June 2012 (UTC)

One question:

I didn't make the Polyphen2 part in our task, so I don't know the exact output. Sometimes your write:

• "This mutation is predicted to be probably damaging with a score of 1.000 (sensitivity: 0.00; specificity: 1.00)".
  

Wouldn't that mean that while all predictions are true positives (spec. 100%) you get no positives (sens. 0%)? Or is it a spelling error? --Bernhoferm 17:01, 18 June 2012 (UTC)<math></math>

Corrections/Suggestions:

• You have included PAM1, but are missing PAM250.

• SNAP is missing, too.

• You sometimes write blossum instead of blosum. I did the same sometimes at first^^

• "Only looking at the location of the mutation almost at the C-terminus one would not expect structural or functional implications, since the mutant residue is far away from the known active site or the dimer interface." Something seems missing. Maybe a "being" between "mutation" and "almost"?

• "Eventhough" (G123E, location) => "Even though"

• "Furthermore, since Glycin is not involved in any interactions, there are thus no interactions that are be lost due to the mutaion." I would leave out the "thus".

• "protperties", "smalles", "Blosum64", "glycin" (G123E)

• "This goes along with the annotation for this mutation, that is not classifies as disease causing." (R71K)