Overview



Nucleotide ID c.1126_1131delinsTGCGT
Protein ID p.R376Cfs*54
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57135897
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765026779999999999999999999999999999999999999999999943999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKCVRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPA


              10        20        30        40        50        60


Conf: 99832999998202129


Pred: CCCCCHHHHHHHHHHCC


  AA: RPRTSCREACLQGWTEA


              70

References

PMIDCitation
27521277Panovska-Stavridis I, Eftimov A, Ivanovski M, et al. Diversities of Calreticulin Gene Mutations in Macedonian Patients With Essential Thrombocythemia. Clin Lymphoma Myeloma Leuk. 2016.16(8):477-481. doi:10.1016/j.clml.2016.04.019