Results for the protein: O60674

Results for the Protein: O60674

12643404

3717

JAK2

NCBI, UniProt

JAK2_HUMAN RecName: Full=Tyrosine-protein kinase JAK2; AltName: Full=Janus kinase 2; Short=JAK-2

Known Diseases associated with this Protein:
  ERYTHROCYTOSIS,
  ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
  LEUKEMIA, ACUTE MYELOGENOUS (AML)
  LEUKEMIA, ACUTE MYELOGENOUS, SOMATIC
  MYELOFIBROSIS, SOMATIC, INCLUDED;;
  POLYCYTHEMIA VERA, SOMATIC
  THROMBOCYTHEMIA 3
  THROMBOCYTHEMIA 3 (THCYT3)
  THROMBOCYTHEMIA 3, SOMATIC, INCLUDED;;

7

8

4

0

11

Tips:

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Default View: B41 - smart00295 SH2 - smart00252 TyrKc - smart00219 STYKc - smart00221 Pkinase_Tyr - pfam07714 S_TKc - smart00220	Swiss-Prot Protein: O60674 Identical to: NP_004963 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SH2	smart00252	6e-18	397	487
Pkinase_Tyr	pfam07714	3.6e-84	545	805
TyrKc	smart00219	9.4e-25	545	805
STYKc	smart00221	4e-14	545	811
S_TKc	smart00220	1.5e-11	555	809
Pkinase_Tyr	pfam07714	2.4e-139	849	1123
TyrKc	smart00219	8e-138	849	1123
STYKc	smart00221	2.3e-54	849	1096
S_TKc	smart00220	1.5e-48	859	1127

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_041719	Polymorphism	p.ALA377GLU	N/A
Swiss-Prot	VAR_041721	Polymorphism	p.ARG1063HIS	N/A
Swiss-Prot	VAR_043129	Polymorphism	p.ASP584GLU	N/A
Swiss-Prot	VAR_041716	Polymorphism	p.GLY127ASP	N/A
Swiss-Prot	VAR_041720	Polymorphism	p.LEU393VAL	N/A
Swiss-Prot	VAR_041718	Polymorphism	p.LYS346ARG	N/A
Swiss-Prot	VAR_032696	Disease	p.LYS607ASN	Leukemia, acute myelogenous (AML)
Swiss-Prot	VAR_041717	Polymorphism	p.LYS191GLN	N/A
Swiss-Prot	VAR_032695	Polymorphism	p.LYS539LEU	N/A
Swiss-Prot	VAR_067534	Disease	p.VAL617ILE	Thrombocythemia 3 (THCYT3)
Swiss-Prot	VAR_032697	Disease	p.VAL617PHE	Thrombocythemia 3 (THCYT3)
OMIM	147796.0002	Disease	p.LYS607ASN	LEUKEMIA, ACUTE MYELOGENOUS, SOMATIC
OMIM	147796.0003	Disease	p.LYS539LEU	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
OMIM	147796.0004	Disease	p.VAL617ILE	THROMBOCYTHEMIA 3
OMIM	147796.0001	Disease	p.VAL617PHE	POLYCYTHEMIA VERA, SOMATIC\|\|THROMBOCYTHEMIA 3, SOMATIC, INCLUDED;;\|\|MYELOFIBROSIS, SOMATIC, INCLUDED;;\|\|ERYTHROCYTOSIS,

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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