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First of all, something that I noticed is that in my first query the answer I received after a few hours was the following "... your submitted mutation is located at the signal peptide region of Angiogenin.
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Outputs an ARFF formatted file of features for the submitted mutations.
In two studies that screened randomly selected cases submitted, mutations were identified in 15% of canine MCTs [ 35, 36].
The developed web tool simplifies and enhances the time-consuming task of assessing the potential effects of mutations on protein function by providing simultaneous retrieval and display of predictions from separate web tools for a set of submitted mutations.
Based on these considerations, an analytical tool that aligns (see Database and Analysis Tools) and displays the TDP-43 protein sequences encoded by the TDP-43 gene from different vertebrate species with the submitted mutations annotated was implemented.
Once the mutation is submitted, the mutated protein is prepared in silico.
When a user submits a mutation, the mutant protein is prepared in silico by replacing the target residue with the desired amino acid residue.
Here we present the analysis of all 21 missense mutations found as to date in the LGI1 gene from subjects with familial or sporadic ADLTE, including the recently published p.R407C mutation (Striano et al., in press), the two p.I122T and p.C179R mutations (submitted) and the unpublished p.T380A mutation.
To submit a mutation, the user selects the source amino acid residue which needs to be mutated with the desired residue.
A total of 1027 lung cancer, colorectal cancer or melanoma specimens were submitted for clinical mutation detection by next generation sequencing.
The remote user is able to search the data and is encouraged to submit new mutations into the database.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com