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Results for the Protein: O60880
6094278

SH21A_HUMAN RecName: Full=SH2 domain-containing protein 1A; AltName: Full=Duncan disease SH2-protein; AltName: Full=Signaling lymphocytic activation molecule-associated protein; Short=SLAM-associated protein; AltName: Full=T-cell signal transduction molecule SAP

Known Diseases associated with this Protein:
  LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
  LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (XLP1)
27
1
8
0
20
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Default View:

SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017


Swiss-Prot Protein: O60880
Identical to: NP_002342
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH2pfam000177.2e-08787
SH2smart002529.5e-22493

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018307Diseasep.ARG55LEULymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_005612Diseasep.ARG32THRLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048011Diseasep.ASP33TYRLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048012Diseasep.CYS42TRPLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048019Diseasep.GLN99PROLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048007Diseasep.GLY16ASPLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048008Diseasep.GLY27SERLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048013Diseasep.GLY49VALLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048006Diseasep.HIS8ASPLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048017Diseasep.ILE84THRLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048010Diseasep.LEU31PROLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048018Diseasep.PHE87SERLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_005614Diseasep.PRO101LEULymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048009Diseasep.SER28ARGLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048016Polymorphismp.SER57PRON/A
Swiss-ProtVAR_048014Diseasep.THR53ILELymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_005613Diseasep.THR68ILELymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048015Diseasep.TYR54CYSLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048005Diseasep.TYR7CYSLymphoproliferative syndrome, X-linked, 1 (XLP1)
Swiss-ProtVAR_048020Diseasep.VAL102GLYLymphoproliferative syndrome, X-linked, 1 (XLP1)
OMIM300490.0013 Diseasep.ARG55LEULYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0001 Diseasep.ARG55TERLYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0004 Diseasep.ARG32THRLYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0002 Diseasep.GLN58TERLYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0011 Diseasep.MET1ILELYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0007 Diseasep.PRO101LEULYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0006 Diseasep.TER129ARGLYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
OMIM300490.0008 Diseasep.THR68ILELYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1



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