Results for the protein: P50851

Results for the Protein: P50851

259016388

987

LRBA

NCBI, UniProt

LRBA_HUMAN RecName: Full=Lipopolysaccharide-responsive and beige-like anchor protein; AltName: Full=Beige-like protein; AltName: Full=CDC4-like protein

Known Diseases associated with this Protein:
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (CVID8)

4

10

3

3

8

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Default View: DUF1088 - pfam06469 PH_BEACH - cd01201 Beach - pfam02138 Beach - cd06071 WD40 - cd00200	Swiss-Prot Protein: P50851 Identical to: NP_006717 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Beach	cd06071	4.8e-189	2212	2489
WD40	cd00200	3.1e-05	2498	2849
Beach	pfam02138	2.7e-184	2212	2489
DUF1088	pfam06469	5.8e-138	1880	2059

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1782360	Polymorphism	p.ALA1090GLY	N/A
dbSNP	rs3749574	Polymorphism	p.ALA2704THR	N/A
Swiss-Prot	VAR_057608	Polymorphism	p.ARG1997CYS	N/A
Swiss-Prot	VAR_057607	Polymorphism	p.ASN1677SER	N/A
Swiss-Prot	VAR_035883	Polymorphism	p.GLN2038HIS	N/A
Swiss-Prot	VAR_035884	Polymorphism	p.GLY2274ARG	N/A
Swiss-Prot	VAR_057606	Polymorphism	p.GLY1230ASP	N/A
Swiss-Prot	VAR_068690	Disease	p.ILE2657SER	Immunodeficiency, common variable, 8, with autoimmunity (CVID8)
Swiss-Prot	VAR_057610	Polymorphism	p.LEU2713PHE	N/A
dbSNP	rs2290846	Polymorphism	p.SER2809LEU	N/A
Swiss-Prot	VAR_035885	Polymorphism	p.THR2701LYS	N/A
OMIM	606453.0002	Disease	p.ARG1683TER	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
OMIM	606453.0003	Disease	p.GLU59TER	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
OMIM	606453.0001	Disease	p.ILE2657SER	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY

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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