Results for the protein: P31785

Results for the Protein: P31785

400048

3561

IL2RG

NCBI, UniProt

IL2RG_HUMAN RecName: Full=Cytokine receptor common subunit gamma; AltName: Full=Interleukin-2 receptor subunit gamma; Short=IL-2 receptor subunit gamma; Short=IL-2R subunit gamma; Short=IL-2RG; AltName: Full=gammaC; AltName: Full=p64; AltName: CD_antigen=CD132; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED IMMUNODEFICIENCY, X-LINKED
  SEVERE COMBINED IMMUNODEFICIENCY X-LINKED T-CELL-NEGATIVE/B-CELL-POSITIVE/NK-CELL-NEGATIVE (XSCID)
  SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
  X-LINKED COMBINED IMMUNODEFICIENCY (XCID)

44

2

11

0

35

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Default View: IL6Ra-bind - pfam09240 FN3 - smart00060 FN3 - cd00063	Swiss-Prot Protein: P31785 Identical to: NP_000197 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IL6Ra-bind	pfam09240	3.6e-09	56	151
FN3	smart00060	0.00029	154	232

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002682	Disease	p.ALA156VAL	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002688	Disease	p.ARG222CYS	X-linked combined immunodeficiency (XCID)
Swiss-Prot	VAR_002690	Disease	p.ARG226CYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002701	Disease	p.ARG285GLN	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002691	Disease	p.ARG226HIS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002689	Disease	p.ARG224TRP	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002672	Disease	p.ASN84LYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002668	Disease	p.ASP39ASN	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002677	Disease	p.CYS115ARG	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002686	Disease	p.CYS182ARG	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002669	Disease	p.CYS62GLY	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002676	Disease	p.CYS115PHE	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002694	Disease	p.CYS231TYR	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002680	Disease	p.GLN144PRO	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002670	Disease	p.GLU68GLY	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_020611	Polymorphism	p.GLU109LYS	N/A
Swiss-Prot	VAR_002671	Disease	p.GLU68LYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002695	Disease	p.GLY232ARG	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002675	Disease	p.GLY114ASP	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002678	Disease	p.HIS123PRO	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002681	Disease	p.ILE153ASN	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002685	Disease	p.LEU172GLN	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002702	Disease	p.LEU293GLN	X-linked combined immunodeficiency (XCID)
Swiss-Prot	VAR_002683	Disease	p.LEU162HIS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002684	Disease	p.LEU172PRO	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002693	Disease	p.LEU230PRO	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002687	Disease	p.LEU183SER	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002699	Disease	p.MET270ARG	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002692	Disease	p.PHE227CYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002698	Disease	p.SER241ILE	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_059301	Polymorphism	p.THR44SER	N/A
Swiss-Prot	VAR_002697	Disease	p.TRP240CYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002679	Disease	p.TYR125ASN	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002674	Disease	p.TYR105CYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-Prot	VAR_002673	Disease	p.TYR89CYS	Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
OMIM	308380.0012	Disease	p.ARG222CYS	COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0011	Disease	p.ARG285GLN	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0002	Disease	p.ARG267TER	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0010	Disease	p.CYS115ARG	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0004	Disease	p.CYS62TER	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0005	Disease	p.GLY114ASP	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0007	Disease	p.ILE153ASN	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0008	Disease	p.LEU271GLN	COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0013	Disease	p.LEU151PRO	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0001	Disease	p.LYS97TER	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM	308380.0003	Disease	p.SER286TER	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED

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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