Overview



Nucleotide ID c.1103_1136del
Protein ID p.K368Rfs*51
Mutation Deletion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57117058
Pathologie Myeloproliferative neoplasm unclassifiable / Idiopathic erythrocytosis / Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765137679999999999999999999999999999999994499999943999998


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHH


  AA: AAEKQMKDKQDEEQRLRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACL


              10        20        30        40        50        60


Conf: 202139


Pred: HHHHCC


  AA: QGWTEA

References

PMIDCitation
25729726Park SH, Kim SY, Lee SM, et al. Incidence, clinical features, and prognostic impact of CALR exon 9 mutations in essential thrombocythemia and primary myelofibrosis: an experience of a single tertiary hospital in Korea. Ann Lab Med. 2015.35(2):233-237. doi:10.3343/alm.2015.35.2.233
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
29306106Gángó A, Mózes R, Boha Z, et al. Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Leuk Res. 2018.65:42-48. doi:10.1016/j.leukres.2017.12.005
25746303Li N, Yao QM, Gale RP, et al. Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. Leuk Res. 2015.39(5):510-514. doi:10.1016/j.leukres.2015.02.006
25398833Shirane S, Araki M, Morishita S, et al. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. 2015.100(2):e46-e48. doi:10.3324/haematol.2014.115113
24325359Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013.369(25):2391-2405. doi:10.1056/NEJMoa1312542
24366362Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014.123(10):1544-1551. doi:10.1182/blood-2013-11-539098