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Results for the Protein: Q06124
84028248

PTN11_HUMAN RecName: Full=Tyrosine-protein phosphatase non-receptor type 11; AltName: Full=Protein-tyrosine phosphatase 1D; Short=PTP-1D; AltName: Full=Protein-tyrosine phosphatase 2C; Short=PTP-2C; AltName: Full=SH-PTP2; Short=SHP-2; Short=Shp2; AltName: Full=SH-PTP3

Known Diseases associated with this Protein:
  LEOPARD SYNDROME 1 (LEOPARD1)
  LEUKEMIA, JUVENILE MYELOMONOCYTIC (JMML)
  NOONAN SYNDROME 1 (NS1)
50
4
0
0
54
Tips:
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Default View:

SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017
PTP2 - COG5599
PTPc - smart00194
Y_phosphatase - pfam00102
PTPc - cd00047
CDC14 - COG2453
PTPc_motif - smart00404
PTPc_DSPc - smart00012


Swiss-Prot Protein: Q06124
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH2cd001731.1e-305102
SH2cd001731.6e-32111216
PTPccd000474.1e-127275524
SH2pfam000178.4e-37681
SH2pfam000177.7e-35112197
PTP2COG55993.7e-37227533
Y_phosphatasepfam001021.7e-119273524
CDC14COG24530.0002354542
SH2smart002521.6e-29487
SH2smart002526.7e-39110203
PTPcsmart001947.7e-134246524
PTPc_DSPcsmart000128.7e-46418524
PTPc_motifsmart004048.7e-46418524

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015607Diseasep.ALA72GLYNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015608Diseasep.ALA72SERNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027190Diseasep.ALA465THRLEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_015996Diseasep.ALA72THRLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_015997Diseasep.ALA72VALLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_027192Diseasep.ARG502LEULEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_015622Diseasep.ARG505LYSNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027193Diseasep.ARG502TRPLEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_015619Diseasep.ASN308ASPNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027184Diseasep.ASN58LYSNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015618Diseasep.ASN308SERNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015612Diseasep.ASP106ALANoonan syndrome 1 (NS1)
Swiss-ProtVAR_015604Diseasep.ASP61ASNNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015603Diseasep.ASP61GLYNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015992Diseasep.ASP61TYRLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_015991Diseasep.ASP61VALLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_027187Diseasep.GLN256ARGNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027195Diseasep.GLN510ARGNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015611Diseasep.GLN79ARGNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027194Diseasep.GLN510PROLEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_027196Diseasep.GLN514PROLEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_027186Diseasep.GLN79PRONoonan syndrome 1 (NS1)
Swiss-ProtVAR_015998Diseasep.GLU76ALALeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_015613Diseasep.GLU139ASPNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015610Diseasep.GLU76ASPNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027185Diseasep.GLU69GLNNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015999Diseasep.GLU76GLYLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_015993Diseasep.GLU69LYSLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_016000Diseasep.GLU76LYSLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_016001Diseasep.GLU76VALLeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_027191Diseasep.GLY468ALALEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_016002Diseasep.GLY507ALALeukemia, juvenile myelomonocytic (JMML)
Swiss-ProtVAR_015602Diseasep.GLY60ALANoonan syndrome 1 (NS1)
Swiss-ProtVAR_016003Polymorphismp.GLY507ARGN/A
Swiss-ProtVAR_015990Polymorphismp.GLY60VALN/A
Swiss-ProtVAR_015615Diseasep.ILE282VALNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015620Diseasep.ILE309VALNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027197Diseasep.LEU564PHENoonan syndrome 1 (NS1)
Swiss-ProtVAR_015624Diseasep.MET508VALNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015617Diseasep.PHE285LEUNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015995Polymorphismp.PHE71LEUN/A
Swiss-ProtVAR_015994Polymorphismp.PHE71LYSN/A
Swiss-ProtVAR_015616Diseasep.PHE285SERNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015623Diseasep.SER506THRNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015601Diseasep.THR42ALANoonan syndrome 1 (NS1)
Swiss-ProtVAR_066060Diseasep.THR59ALANoonan syndrome 1 (NS1)
Swiss-ProtVAR_027183Diseasep.THR2ILENoonan syndrome 1 (NS1)
Swiss-ProtVAR_015609Diseasep.THR73ILENoonan syndrome 1 (NS1)
Swiss-ProtVAR_027189Diseasep.THR415METNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015621Diseasep.THR472METLEOPARD syndrome 1 (LEOPARD1)
Swiss-ProtVAR_015605Diseasep.TYR62ASPNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015614Diseasep.TYR279CYSNoonan syndrome 1 (NS1)
Swiss-ProtVAR_015606Diseasep.TYR63CYSNoonan syndrome 1 (NS1)
Swiss-ProtVAR_027188Diseasep.TYR279SERLEOPARD syndrome 1 (LEOPARD1)



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