Overview



Nucleotide ID c.1154delinsTTTGTC
Protein ID p.K385Ifs*47
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category Type 35
COSMIC COSV57120703
Pathologie Myelofibrosis


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999999999999999999999999999999999439


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDICRRMMRTKMRMRRMRRTRRKMRRKMS


              10        20        30        40        50        60


Conf: 9999832999998202129


Pred: CCCCCCCHHHHHHHHHHCC


  AA: PARPRTSCREACLQGWTEA


              70

References

PMIDCitation
27013444Theocharides AP, Lundberg P, Lakkaraju AK, et al. Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency. Blood. 2016.127(25):3253-3259. doi:10.1182/blood-2016-02-696310
24325356Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013.369(25):2379-2390. doi:10.1056/NEJMoa1311347