Overview



Nucleotide ID c.1123_1125delinsTTTTGTTT
Protein ID p.K375Ffs*57
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57119133
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765016779999989999886899999999999999999999999999999999439


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKFCFAKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMS


              10        20        30        40        50        60


Conf: 9999832999998202139


Pred: CCCCCCCHHHHHHHHHHCC


  AA: PARPRTSCREACLQGWTEA


              70

References

PMIDCitation
26343915Riera L, Osella-Abate S, Benevolo G, et al. Novel CALR somatic mutations in essential thrombocythaemia. Br J Haematol. 2016.173(5):797-801. doi:10.1111/bjh.13638