a sequence change where, compared to a reference sequence, more than one nucleotide replacing the original sequence are the reverse complement of the original sequence.
Format: “prefix”“positions_inverted”“inv”, e.g. r.123_345inv
“prefix” = reference sequence used = r. “positions_inverted” = range of nucleotides inverted = 123_345 “inv” = type of change is an inversion = inv
prefix reference sequences accepted are r. (coding and non-coding RNA)
by definition, the region inverted (“positions_inverted”) contains more then one nucleotide. The description r.234inv is therefore not allowed; a one nucleotide inversion should be described as a substitution
for all descriptions the most 3’ position possible of the reference sequence is arbitrarily assigned to have been changed (3’rule)
the 3’rule applies to ALL descriptions (genome, gene, transcript and protein) of a given variant
inversion of nucleotides r.177 to r.180, changing ..aggcugauu.. to ..aggucaguu..
inversion of the 304 nucleotides from position r.203 to r.506
Is the change "aagc" to "uucg" an inversion?
No, an inversion would change "aagc" to "gcuu", its revese-complement. "uucg" is only the complement of "aagc".
Is the change "aagc" to "cgaa" an inversion?
No, an inversion would change "aagc" to "gcuu", its revese-complement. CGAA is only the reverse of "aagc".
On the old nomenclature website (bottom) you had the example r.124_500delinsoAB053210.2:r.1289-365_1289-73, i.e. the "o" indicating the inserted sequence AB053210.2:r.1289-365_1289-73 was from the opposite transcriptional strand. Is the "o" still used?
No, the "o" is not used, the insertion is in an inverted orientation so "inv" should be used; r.124_500delinsAB053210.2:r.1289-365_1289-73inv.