Frage
Extensions affect either the first (start, translation initiation, N-terminus. ATG) or last codon (translation termination, stop) and as a consequence extend the protein sequence N- or C-terminally with one or more amino acids. Extensions are described using "ext" after a description of the change at the first amino acid affected and followed by a description of the position of the new translation initiation or termination codon.
Z. B. p.Ter110GlnextTer17 (alternatively p.*110Glnext*17)
a variant in the stop codon (Ter/*) at position 110, changing it to a Gln-codon (a no-stop variant) and adding a tail of new amino acids to the protein’s C-terminus, ending at a new stop codon (Ter/*) at position 17
http://varnomen.hgvs.org/recommendations/protein/variant/extension/
Mit einem Beispiel für eine Krankheit kann ich aber auf die Schnelle nicht dienen.
