Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6N021: Variant p.His1881Arg

Methylcytosine dioxygenase TET2
Gene: TET2
Feedback?
Variant information Variant position: help 1881
Type of variant: help LB/B
Residue change: help From Histidine (H) to Arginine (R) at position 1881 (H1881R, p.His1881Arg).
Physico-chemical properties: help Change from medium size and polar (H) to large size and basic (R)
BLOSUM score: help 0
Variant description: help In a myeloproliferative disorder; somatic mutation; also in a patient with systemic mastocytosis associated with chronic myelomonocytic leukemia.
Other resources: help


Sequence information Variant position: help 1881
Protein sequence length: help 2002
Location on the sequence: help GVAVAPTHGSILIECAKREL H ATTPLKNPNRNHPTRISLVF
Residue conservation: help 
Human                         GVAVAPTHGSILIECAKRELHATTPLKNPNRNHPTRISLVF

Mouse                         GVAIAPTHGSILIECAKCEVHATTKVNDPDRNHPTRISLVL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2002 Methylcytosine dioxygenase TET2
Binding site 1881 – 1881
Alternative sequence 1166 – 2002 Missing. In isoform 2.
Alternative sequence 1195 – 2002 Missing. In isoform 3.
Beta strand 1881 – 1883



Literature citations
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.
Abdel-Wahab O.; Mullally A.; Hedvat C.; Garcia-Manero G.; Patel J.; Wadleigh M.; Malinge S.; Yao J.; Kilpivaara O.; Bhat R.; Huberman K.; Thomas S.; Dolgalev I.; Heguy A.; Paietta E.; Le Beau M.M.; Beran M.; Tallman M.S.; Ebert B.L.; Kantarjian H.M.; Stone R.M.; Gilliland D.G.; Crispino J.D.; Levine R.L.;
Blood 114:144-147(2009)
Cited for: INVOLVEMENT IN MYELOID MALIGNANCIES; VARIANTS PHE-34; ASN-145; HIS-174; SER-312; PHE-460; GLY-666; HIS-867; SER-941; VAL-1073; PRO-1084; TYR-1135; CYS-1204; TRP-1214; VAL-1242; SER-1245; CYS-1261; HIS-1261; PHE-1417; LEU-1718; SER-1723; ASP-1757; ARG-1811; LEU-1828; THR-1873; ARG-1881; ALA-1900; VAL-1919; HIS-1926; SER-1941; HIS-1966; MET-1974 AND LYS-2000; Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates.
Tefferi A.; Levine R.L.; Lim K.H.; Abdel-Wahab O.; Lasho T.L.; Patel J.; Finke C.M.; Mullally A.; Li C.Y.; Pardanani A.; Gilliland D.G.;
Leukemia 23:900-904(2009)
Cited for: INVOLVEMENT IN SYSTEMIC MASTOCYTOSIS; VARIANT ARG-1881;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.