Results for the protein: Q9Y2R2

Results for the Protein: Q9Y2R2

20139861

26191

PTPN22

NCBI, UniProt

PTN22_HUMAN RecName: Full=Tyrosine-protein phosphatase non-receptor type 22; AltName: Full=Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP; AltName: Full=Lymphoid phosphatase; Short=LyP; AltName: Full=PEST-domain phosphatase; Short=PEP

Known Diseases associated with this Protein:
  DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
  RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO, INCLUDED;;
  SYSTEMIC L

1

1

1

1

0

Tips:

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Default View: PTP2 - COG5599 PTPc - smart00194 Y_phosphatase - pfam00102 PTPc - cd00047 PTPc_motif - smart00404 PTPc_DSPc - smart00012	Swiss-Prot Protein: Q9Y2R2 Identical to: NP_057051 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PTP2	COG5599	1.7e-41	2	294
Y_phosphatase	pfam00102	6.4e-120	54	288
PTPc	smart00194	1.4e-128	23	288
PTPc_DSPc	smart00012	7.9e-41	184	288
PTPc_motif	smart00404	7.9e-41	184	288

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2476601	Polymorphism	p.ARG620TRP	N/A
OMIM	600716.0001	Disease	p.ARG620TRP	DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO\|\|RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO, INCLUDED;;\|\|SYSTEMIC L

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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