Where to find a sequence of mutated gene

Question

[paczynskirobert]

Hi guys,

I was asked to design a plasmid containing a particular (mutated) protein. It's isocitrate dehydrogenase 2 and mutation is described as R172.

I wonder what does it mean? The mutation position is 172 aminoacid turned into arginine (R) or the opposite?

Answer 1

[13en]

The convention for describing protein mutations is wild-type residue followed by position then variant, so I think you've been given incomplete information. It looks like position 172 is an arginine (just checked the top transcript for human IDH2 on Ensembl), so you'd expect R172[variant residue]. I'd ask the person who gave you the task for a bit more information about what they want!