Results for the protein: P98174

Results for the Protein: P98174

28202247

2245

FGD1

NCBI, UniProt

FGD1_HUMAN RecName: Full=FYVE, RhoGEF and PH domain-containing protein 1; AltName: Full=Faciogenital dysplasia 1 protein; AltName: Full=Rho/Rac guanine nucleotide exchange factor FGD1; Short=Rho/Rac GEF; AltName: Full=Zinc finger FYVE domain-containing protein 3

Known Diseases associated with this Protein:
  AARSKOG-SCOTT SYNDROME
  AARSKOG-SCOTT SYNDROME (AAS)
  AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER
  MENTAL RETARDATION, X-LINKED, SYNDROMIC 16

12

1

7

0

6

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.

Default View: RhoGEF - cd00160 RhoGEF - smart00325 RhoGEF - pfam00621 PH1_FGD1 - cd01219 PH1_FARP1-like - cd01220 PH - smart00233 PH - pfam00169 PH-like - cd00900 PH - cd00821 FYVE - smart00064 FYVE - pfam01363 FYVE - cd00065 PH_CNK_mammalian-lik - cd01260	Swiss-Prot Protein: P98174 Identical to: NP_004454 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH1_FGD1	cd01219	1.8e-75	590	690
PH1_FARP1-like	cd01220	6e-06	590	690
PH	cd00821	1.1e-18	593	687
PH-like	cd00900	4.4e-13	593	687
FYVE	cd00065	4.6e-23	732	788
PH	cd00821	1.8e-11	824	919
PH-like	cd00900	1.3e-06	824	919
PH_CNK_mammalian-lik	cd01260	0.00037	827	919
RhoGEF	pfam00621	2.4e-65	378	560
PH	pfam00169	4.3e-19	591	689
FYVE	pfam01363	3.8e-23	725	791
PH	pfam00169	3.4e-15	822	921
RhoGEF	smart00325	1.4e-64	377	560
PH	smart00233	2.6e-18	591	689
FYVE	smart00064	3e-26	724	791
PH	smart00233	3.8e-13	822	921

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015237	Disease	p.ARG610GLN	Aarskog-Scott syndrome (AAS)
Swiss-Prot	VAR_019271	Disease	p.ARG443HIS	Aarskog-Scott syndrome (AAS)
Swiss-Prot	VAR_015236	Disease	p.ARG522HIS	Aarskog-Scott syndrome (AAS)
Swiss-Prot	VAR_019270	Disease	p.GLU380ALA	Aarskog-Scott syndrome (AAS)
Swiss-Prot	VAR_019269	Polymorphism	p.PRO312LEU	N/A
Swiss-Prot	VAR_019268	Disease	p.SER205ILE	Aarskog-Scott syndrome (AAS)
OMIM	300546.0007	Disease	p.ARG408GLN	AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER
OMIM	300546.0002	Disease	p.ARG610GLN	AARSKOG-SCOTT SYNDROME
OMIM	300546.0003	Disease	p.ARG522HIS	AARSKOG-SCOTT SYNDROME
OMIM	300546.0009	Disease	p.ARG433LEU	AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER
OMIM	300546.0012	Disease	p.ARG656TER	AARSKOG-SCOTT SYNDROME
OMIM	300546.0011	Disease	p.MET466VAL	AARSKOG-SCOTT SYNDROME
OMIM	300546.0005	Disease	p.PRO312LEU	MENTAL RETARDATION, X-LINKED, SYNDROMIC 16

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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