Using CLC I get the following mutation:
KEAP1 ENST00000171111:c.254dupA ENSP00000171111:p.Tyr85fs
but why is it dupA, although a "T" is inserted!? It should be correct: c.254insT isn´t it!? Or is it because KEAP1 is on the negative strand on chrom. 19 and the igf refers always to the positive direction!?
Because if it would be dupA then you get a stop codon, p.Tyr85Ter, but if it is insT you get a frameshift and a subsequent stop after 10 aa or so...So at the end its truncating, but I am a little bit confused^^
Thx for advice.