Results for the protein: P15918

Results for the Protein: P15918

313104166

5896

RAG1

NCBI, UniProt

RAG1_HUMAN RecName: Full=V(D)J recombination-activating protein 1; Short=RAG-1; AltName: Full=RING finger protein 74; Includes: RecName: Full=Endonuclease RAG1; Includes: RecName: Full=E3 ubiquitin-protein ligase RAG1

Known Diseases associated with this Protein:
  ALPHA/BETA T-CELL LYMPHOPENIA, WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION AND AUTOIMMUNITY (T-C
  COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (CHIDG)
  OMENN SYNDROME (OS)

24

21

0

0

45

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Default View: RING - cd00162 RING - smart00184 zf-C3HC4 - pfam00097 zf-RAG1 - pfam10426	Swiss-Prot Protein: P15918 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C3HC4	pfam00097	1e-08	293	331
RING	smart00184	1.3e-07	293	331
zf-RAG1	pfam10426	2e-14	354	383

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007800	Polymorphism	p.ALA156VAL	N/A
Swiss-Prot	VAR_025977	Polymorphism	p.ALA444VAL	N/A
Swiss-Prot	VAR_008886	Disease	p.ARG396CYS	Omenn syndrome (OS)
Swiss-Prot	VAR_067275	Polymorphism	p.ARG474CYS	N/A
Swiss-Prot	VAR_008890	Disease	p.ARG561CYS	Omenn syndrome (OS)
Swiss-Prot	VAR_025982	Disease	p.ARG624CYS	Omenn syndrome (OS)
Swiss-Prot	VAR_025974	Polymorphism	p.ARG410GLN	N/A
Swiss-Prot	VAR_045958	Disease	p.ARG778GLN	Combined cellular and humoral immune defects with granulomas (CHIDG)
Swiss-Prot	VAR_025987	Disease	p.ARG975GLN	Omenn syndrome (OS)
Swiss-Prot	VAR_007801	Polymorphism	p.ARG244GLY	N/A
Swiss-Prot	VAR_029261	Polymorphism	p.ARG247HIS	N/A
Swiss-Prot	VAR_008887	Disease	p.ARG396HIS	Omenn syndrome (OS)
Swiss-Prot	VAR_025978	Polymorphism	p.ARG474HIS	N/A
Swiss-Prot	VAR_008889	Disease	p.ARG561HIS	Omenn syndrome (OS)
Swiss-Prot	VAR_007803	Polymorphism	p.ARG624HIS	N/A
Swiss-Prot	VAR_008891	Disease	p.ARG737HIS	Omenn syndrome (OS)
Swiss-Prot	VAR_025972	Disease	p.ARG396LEU	Omenn syndrome (OS)
Swiss-Prot	VAR_029262	Polymorphism	p.ARG449LYS	N/A
Swiss-Prot	VAR_025981	Disease	p.ARG559SER	Omenn syndrome (OS)
Swiss-Prot	VAR_045957	Disease	p.ARG314TRP	Combined cellular and humoral immune defects with granulomas (CHIDG)
Swiss-Prot	VAR_025979	Disease	p.ARG507TRP	Combined cellular and humoral immune defects with granulomas (CHIDG)
Swiss-Prot	VAR_067276	Disease	p.ARG699TRP	Omenn syndrome (OS)
Swiss-Prot	VAR_025985	Disease	p.ARG841TRP	Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-C
Swiss-Prot	VAR_045959	Disease	p.ARG975TRP	Combined cellular and humoral immune defects with granulomas (CHIDG)
Swiss-Prot	VAR_025986	Polymorphism	p.ASN855ILE	N/A
Swiss-Prot	VAR_029264	Polymorphism	p.ASP887ASN	N/A
Swiss-Prot	VAR_020113	Polymorphism	p.ASP302GLU	N/A
Swiss-Prot	VAR_008888	Disease	p.ASP429GLY	Omenn syndrome (OS)
Swiss-Prot	VAR_025971	Disease	p.CYS328TYR	Omenn syndrome (OS)
Swiss-Prot	VAR_025988	Disease	p.GLN981PRO	Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-C
Swiss-Prot	VAR_025983	Disease	p.GLU669GLY	Omenn syndrome (OS)
Swiss-Prot	VAR_007804	Polymorphism	p.GLU722LYS	N/A
Swiss-Prot	VAR_020114	Polymorphism	p.GLU880LYS	N/A
Swiss-Prot	VAR_007802	Polymorphism	p.HIS249ARG	N/A
Swiss-Prot	VAR_025984	Polymorphism	p.HIS753LEU	N/A
Swiss-Prot	VAR_008893	Disease	p.LEU885ARG	Omenn syndrome (OS)
Swiss-Prot	VAR_067274	Disease	p.LEU454GLN	Omenn syndrome (OS)
Swiss-Prot	VAR_008892	Polymorphism	p.LYS820ARG	N/A
Swiss-Prot	VAR_025976	Disease	p.MET435VAL	Omenn syndrome (OS)
Swiss-Prot	VAR_029263	Polymorphism	p.PRO525SER	N/A
Swiss-Prot	VAR_029260	Polymorphism	p.SER169LEU	N/A
Swiss-Prot	VAR_025973	Disease	p.SER401PRO	Omenn syndrome (OS)
Swiss-Prot	VAR_025980	Polymorphism	p.TRP522CYS	N/A
Swiss-Prot	VAR_008894	Disease	p.TYR912CYS	Omenn syndrome (OS)
Swiss-Prot	VAR_025975	Polymorphism	p.VAL433MET	N/A

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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