|
|
|
|
|
|
by codeulike
2596 days ago
|
|
|
That's a useful guide. A description of how sets of three letters translate to amino acids or stop commands would be handy, because that bit is quite mind-blowing and also quite reminiscent of machine code. And from there you can explain different sorts of mutation, like truncation, substitution and phase shift. Also a guide to how to usr all that to interpret medical nonclemature of mutations, like c.345G>E would be handy |
|
|
Those mutation descriptions are called HGVS (Human Genome Variation Society) nomenclature. In the example you give, "c." means that it's in a (protein) coding region, 345 is the position within the region, and G>E would be the change (although E isn't a valid "letter" in DNA sequence, even if you allow ambiguity codes -- you'd normally see something like G>T there instead).
Complications include:
1) You need to know which gene this is relative to.
2) The "coding sequence" for the gene isn't always perfectly defined, due to splice variation and different versions of the annotation. Ideally, you'd see this code relative to a specific splice variant (which might have an ENST identifier, from http://www.ensembl.org/). But it depends...
More at http://varnomen.hgvs.org/ if you're curious.