seppinho/mutserve

AAS annotation currently wrong

scogi opened this issue · 0 comments

scogi commented

I uploaded sampel samphir 4343. The annotation of aas is currently wrong. The psitions 594, 621 and 666 are currently reported to change protein sequence:
Lys>Glu
Trp>Arg
Arg>Trp

This is not correct. These posititions are the Type b positions and are synonymous changes

594 A>G: Gln4Gln
621 T>C: His13His
666 A>T Thr28Thr

Attention: At pos 666 also A>C changes exist, but also these make Thr>Thr.

UPDATE: Checked a few others. Are not correct too, e.g.
672 A>G: should be Arg>Arg
4925G>A : Should be Ala>Thr
584 C>T: Should be Pro>Leu