Overview



Nucleotide ID c.1214del
Protein ID p.E405Gfs*25
Mutation Deletion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57122750
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765237789999999999999999999862203344454322077788870036999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHHCCCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDKEDDEDKDEDEEDEEDKEEDGRKMSPA


              10        20        30        40        50        60


Conf: 98741999998202039


Pred: CCCCCHHHHHHHHHHCC


  AA: RPRTSCREACLQGWTEA


              70

References

PMIDCitation
25934766Al Assaf C, Van Obbergh F, Billiet J, et al. Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations. Haematologica. 2015.100(7):893-897. doi:10.3324/haematol.2014.118299