Overview



Nucleotide ID c.1135del
Protein ID p.E379Rfs*51
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV104607542
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935776237889999999999999999999999999999999999999999999934999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKERRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPA


              10        20        30        40        50        60


Conf: 99954999998535139


Pred: CCCCCHHHHHHHHHHCC


  AA: RPRTSCREACLQGWTEA


              70

References

PMIDCitation
31856623Polokhov DM, Ershov NM, Ignatova AA, et al. Platelet function and blood coagulation system status in childhood essential thrombocythemia. Platelets. 2020.31(8):1001-1011. doi:10.1080/09537104.2019.1704710