Results for the protein: Q13158

Results for the Protein: Q13158

2498355

8772

FADD

NCBI, UniProt

FADD_HUMAN RecName: Full=Protein FADD; AltName: Full=FAS-associated death domain protein; AltName: Full=FAS-associating death domain-containing protein; AltName: Full=Growth-inhibiting gene 3 protein; AltName: Full=Mediator of receptor induced toxicity

Known Diseases associated with this Protein:
  AND CARDIOVASCULAR MALFORMATIONS
  INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION AND CARDIOVASCULAR MALFORMATIONS (IEHDCM)
  INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION,

2

0

1

0

1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Swiss-Prot Protein: Q13158

Identical to: NP_003815

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DED_FADD	cd08336	6.2e-44	2	83
DED_Caspase-like_rep	cd08775	0.00012	2	82
DED_Caspase_8_10_rep	cd08334	1e-05	3	84
DED	cd00045	2.4e-28	4	80
DED_Caspase_8_repeat	cd08333	2.3e-06	4	82
DED_Caspase_8_10_rep	cd08792	2.8e-15	4	80
Death_TRAILR_DR4_DR5	cd08315	0.00099	94	187
Death_ank	cd08317	7.6e-06	95	171
Death_ank2	cd08804	6.9e-05	95	178
Death_FADD	cd08306	6.7e-58	97	182
Death	cd01670	1.7e-28	100	178
Death_DRs	cd08784	0.00072	100	178
Death_RIP1	cd08777	4.6e-07	102	179
DED	pfam01335	5.6e-30	4	87
Death	pfam00531	8.7e-26	98	181
DED	smart00031	7.8e-30	2	81
DEATH	smart00005	7.2e-26	94	180

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065124	Disease	p.CYS105TRP	Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM)
OMIM	602457.0001	Disease	p.CYS105TRP	INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION,\|\|AND CARDIOVASCULAR MALFORMATIONS

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258