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Results for the Protein: NP_002829
392307007

receptor-type tyrosine-protein phosphatase C isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  B CELL-POSITIVE, NK CELL-POSITIVE
  SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
1
1
1
1
0
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Default View:

PTP_N - pfam12453
CD45 - pfam12567
FN3 - cd00063
FN3 - smart00060
PTP2 - COG5599
PTPc - smart00194
Y_phosphatase - pfam00102
PTPc - cd00047
PTPc_motif - smart00404
PTPc_DSPc - smart00012


RefSeq Protein: NP_002829
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000635.8e-09485572
PTPccd000472e-127679911
PTPccd000471.6e-1199701227
PTP2COG55993.9e-43629920
Y_phosphatasepfam001021e-123677911
PTP2COG55991.7e-239241240
Y_phosphatasepfam001027e-1139681227
PTP_Npfam124533.3e-11734
PTP_Npfam124531.1e-063562
CD45pfam125674.4e-37236296
FN3smart000607.2e-05485563
PTPcsmart001943.2e-123652911
PTPc_DSPcsmart000123.6e-46810911
PTPc_motifsmart004043.6e-46810911
PTPcsmart001944.3e-1269431227
PTPc_DSPcsmart000129.6e-4511161227
PTPc_motifsmart004049.6e-4511161227

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4915154 Polymorphismp.THR191ALAN/A
OMIM151460.0004 Diseasep.LYS540TERSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-POSITIVE, NK CELL-POSITIVE



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