insertion does not give predicted protein consequence
Created by: jtdendunnen
the consequence of a specific intronic variant is the insertion on RNA levele of 29 nucleotides. Since I wanted to check the predicted consequences at protein level but Mutalyzer does not support r. variant descriptions I tried the c. description NM_000207.2 :c.187_188insAACCTGCTCTGCGCGGCACGTCCTGGCAG. Unfortunately Mutalyzer gives p.? with a warning (Variant hits one or more splice sites in selected transcript). Please give the predicted protein description.
When I try NM_000207.2 :c.187_188insaacctgctctgcgcggcacgtcctggcag I get an error (Although the syntax of this variant is correct, the effect can not be analysed). This error is not correct, syntax is not OK (nucleotides should be in Capitals). I was disappointed Mutalyzer does not suggest NM_000207.2 :c.187_188insAACCTGCTCTGCGCGGCACGTCCTGGCAG as correct.