Results for the protein: P98170

Results for the Protein: P98170

12643387

331

XIAP

NCBI, UniProt

XIAP_HUMAN RecName: Full=E3 ubiquitin-protein ligase XIAP; AltName: Full=Baculoviral IAP repeat-containing protein 4; AltName: Full=IAP-like protein; Short=ILP; Short=hILP; AltName: Full=Inhibitor of apoptosis protein 3; Short=IAP-3; Short=hIAP-3; Short=hIAP3; AltName: Full=X-linked inhibitor of apoptosis protein; Short=X-linked IAP

Known Diseases associated with this Protein:
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2

2

4

2

4

0

Tips:

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Default View: BIR - smart00238 BIR - cd00022 BIR - pfam00653 RING - cd00162 RING - smart00184	Swiss-Prot Protein: P98170 Identical to: NP_001191330, NP_001158 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BIR	cd00022	9.6e-41	164	232
BIR	cd00022	1.4e-34	266	332
RING	cd00162	1e-05	449	488
BIR	pfam00653	7.7e-27	29	94
BIR	pfam00653	1.6e-34	166	231
BIR	pfam00653	8.9e-31	268	331
BIR	smart00238	2e-33	25	95
BIR	smart00238	5.9e-44	162	232
BIR	smart00238	1.1e-35	264	332
RING	smart00184	2.7e-05	450	484

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs28382721	Polymorphism	p.ASN107SER	N/A
dbSNP	rs28382723	Polymorphism	p.ASP242GLU	N/A
dbSNP	rs5956583	Polymorphism	p.GLN423PRO	N/A
dbSNP	rs28382722	Polymorphism	p.SER133PHE	N/A
OMIM	300079.0004	Disease	p.CYS203TYR	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2
OMIM	300079.0002	Disease	p.GLU118TER	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2

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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