[ensembl-dev] Question about "X"
Sarah Hunt
seh at ebi.ac.uk
Wed Sep 3 07:17:35 BST 2014
Dear Ken,
Yes - "X". does signify a stop in this context, the same as "*" or
"Ter". Thanks for bringing this to our attention - the "X" is the old
style of notation so we will update it for our next release.
Best wishes,
Sarah
On 02/09/2014 20:16, Chen,Ken wrote:
> Dear group, we are users of VEP,
>
> We've seen a few examples in our data where the p.HGVS gives an "X".
> Is this the same as a*, meaning truncation?
> Examples:
> ·H64IfsX35: My interpretation being an insertion or deletion of
> nucleotides caused a substitution at codon 64 (H to I) that also
> resulted in a premature stop codon 35 amino acids from codon 64.
> ·T319X: My interpretation being that an insertion or deletion of
> nucleotides caused a mutation from T to a stop codon.
>
> You answer will be greatly appreciated.
>
>
> -Ken
>
>
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