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Old 02-01-2019, 06:44 AM   #1
ira.umabharat
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Location: cambridge

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Default Trying to Identifying protein impact by SV amino acid change

This is a two part question;

(a) To identifying protein change by SV identifiers for genes

I have some structural variants identifiers for some genes, gathered from literature. I was wondering if there is anyway I could identify the protein change in this region. My current theory is to do a blastp to get the protein sequence. From here locate the SV by numbered change. Example of the sv identifiers are like so "ATR A1091V". I found some functional information from HGVS but many from internal data is unknown. Any help to resolve it in a simpler way would be helpful as I have a huge list.

(b) What does SV nomenclature mean ?

Example: "ATR A1091V" Also, I would like to understand what does the nomenclature actually mean. The change to A to V amino acid had in position 1091 ? Is that a copy number with 1 variant ? And if any of them are marked with ' * '; then its numbering to indicating termination ?

Thanks for any help.
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