Results for the protein: P29965

Results for the Protein: P29965

231718

959

CD40LG

NCBI, UniProt

CD40L_HUMAN RecName: Full=CD40 ligand; Short=CD40-L; AltName: Full=T-cell antigen Gp39; AltName: Full=TNF-related activation protein; Short=TRAP; AltName: Full=Tumor necrosis factor ligand superfamily member 5; AltName: CD_antigen=CD154; Contains: RecName: Full=CD40 ligand, membrane form; Contains: RecName: Full=CD40 ligand, soluble form

Known Diseases associated with this Protein:
IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1
X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM 1 (HIGM1)

42

1

10

0

33

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Default View: TNF - cd00184 TNF - smart00207 TNF - pfam00229	Swiss-Prot Protein: P29965 Identical to: NP_000065 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TNF	pfam00229	4e-34	138	261
TNF	smart00207	7.9e-45	138	261

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017933	Disease	p.ALA173ASP	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017936	Disease	p.ALA208ASP	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007514	Disease	p.ALA123GLU	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007527	Disease	p.ALA235PRO	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017927	Disease	p.GLN174ARG	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017938	Disease	p.GLY226ALA	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017929	Disease	p.GLY116ARG	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007523	Polymorphism	p.GLY219ARG	N/A
Swiss-Prot	VAR_017925	Disease	p.GLY38ARG	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017940	Disease	p.GLY257ASP	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007520	Disease	p.GLY144GLU	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017930	Disease	p.GLY116SER	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017928	Disease	p.GLY257SER	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007524	Disease	p.GLY227VAL	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017926	Disease	p.HIS125ARG	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017937	Disease	p.HIS224TYR	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007521	Disease	p.LEU155PRO	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017935	Disease	p.LEU195PRO	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007526	Disease	p.LEU231SER	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017924	Disease	p.LEU258SER	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017932	Disease	p.LYS143THR	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007513	Disease	p.MET36ARG	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017922	Disease	p.THR147ASN	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007522	Disease	p.THR211ASN	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017934	Disease	p.THR176ILE	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007528	Disease	p.THR254MET	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007519	Disease	p.TRP140ARG	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007517	Disease	p.TRP140CYS	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007518	Disease	p.TRP140GLY	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017923	Disease	p.TYR170CYS	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_007515	Disease	p.VAL126ALA	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017931	Disease	p.VAL126ASP	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
Swiss-Prot	VAR_017939	Disease	p.VAL237GLU	X-linked immunodeficiency with hyper-IgM 1 (HIGM1)
OMIM	300386.0012	Disease	p.ALA123GLU	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0001	Disease	p.ALA235PRO	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0002	Disease	p.GLU129GLY	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0003	Disease	p.GLY227VAL	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0004	Disease	p.LEU155PRO	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0006	Disease	p.MET36ARG	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0002	Disease	p.SER128ARG	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0005	Disease	p.THR211ASP	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0008	Disease	p.TRP140GLY	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
OMIM	300386.0007	Disease	p.TRP140TER	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1

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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