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Results for the Protein: P40238
730980
MPL

TPOR_HUMAN RecName: Full=Thrombopoietin receptor; Short=TPO-R; AltName: Full=Myeloproliferative leukemia protein; AltName: Full=Proto-oncogene c-Mpl; AltName: CD_antigen=CD110; Flags: Precursor

Known Diseases associated with this Protein:
  AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
  MYELOFIBROSIS WITH MYELOID METAPLASIA (MMM)
  MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC
  THROMBOCYTHEMIA 2
  THROMBOCYTHEMIA 2 (THCYT2)
  THROMBOCYTHEMIA 2, SOMATIC, INCLUDED
  THROMBOCYTHEMIA 2, SUSCEPTIBILITY TO
13
4
10
2
5
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Default View:

EpoR_lig-bind - pfam09067
FN3 - smart00060


Swiss-Prot Protein: P40238
Identical to: NP_005364
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EpoR_lig-bindpfam090673.2e-5325128
FN3smart000605.9e-27133264
FN3smart000601.2e-06390469

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011988Polymorphismp.ALA58VALN/A
Swiss-ProtVAR_011989Polymorphismp.GLU168LYSN/A
dbSNPrs17292650 Polymorphismp.LYS39ASNN/A
Swiss-ProtVAR_067559Diseasep.SER505ASNThrombocythemia 2 (THCYT2)
Swiss-ProtVAR_067561Diseasep.TRP515LEUThrombocythemia 2 (THCYT2)
Swiss-ProtVAR_067560Diseasep.TRP515LYSMyelofibrosis with myeloid metaplasia (MMM)
dbSNPrs12731981 Polymorphismp.VAL114METN/A
OMIM159530.0003 Diseasep.ARG257CYSAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
OMIM159530.0005 Diseasep.ARG102PROAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
OMIM159530.0001 Diseasep.GLN186TERAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
OMIM159530.0009 Diseasep.LYS39ASNTHROMBOCYTHEMIA 2, SUSCEPTIBILITY TO
OMIM159530.0004 Diseasep.PRO635LEUAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
OMIM159530.0008 Diseasep.PRO275THRAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
OMIM159530.0010 Diseasep.SER505ASNTHROMBOCYTHEMIA 2
OMIM159530.0011 Diseasep.TRP515LEUMYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC||THROMBOCYTHEMIA 2, SOMATIC, INCLUDED
OMIM159530.0012 Diseasep.TRP515LYSMYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC
OMIM159530.0006 Diseasep.TRP491TERAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL



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