Results for the protein: Q01968

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RhoGAP_ARHGAP22_24_2	cd04390	0.00026	715	901
RhoGAP_p190	cd04373	0.00075	719	898
RhoGAP_FAM13A1a	cd04393	1.6e-05	721	898
RhoGAP-p50rhoGAP	cd04404	0.0006	721	889
RhoGAP_srGAP	cd04383	0.0006	722	894
RhoGAP_GMIP_PARG1	cd04378	0.0003	728	894
RhoGAP	cd00159	3.6e-28	735	894
RhoGAP_nadrin	cd04386	0.00011	735	900
COG5411	COG5411	1.3e-35	211	663
Exo_endo_phos	pfam03372	2.2e-75	242	531
RhoGAP	pfam00620	2.6e-34	735	877
IPPc	smart00128	1.8e-156	238	539
RhoGAP	smart00324	1.8e-39	732	895

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010189	Polymorphism	p.ALA797PRO	N/A
Swiss-Prot	VAR_022698	Disease	p.ARG318CYS	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064776	Disease	p.ARG337CYS	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010180	Disease	p.ARG500GLN	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064783	Disease	p.ARG457GLY	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010179	Disease	p.ARG500GLY	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064778	Disease	p.ARG361ILE	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010169	Disease	p.ARG337PRO	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064786	Disease	p.ARG493TRP	Dent disease 2 (DD2)
Swiss-Prot	VAR_010175	Disease	p.ASN424ASP	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064777	Disease	p.ASN354HIS	Dent disease 2 (DD2)
Swiss-Prot	VAR_064790	Disease	p.ASN591LYS	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064779	Disease	p.ASN373TYR	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064782	Disease	p.ASP451ASN	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010176	Disease	p.ASP451GLY	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064788	Disease	p.ASP499HIS	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010178	Disease	p.CYS498TYR	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064775	Disease	p.GLN277ARG	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064784	Disease	p.GLU468GLY	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064785	Disease	p.GLU468LYS	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010170	Polymorphism	p.GLY357GLU	N/A
Swiss-Prot	VAR_010174	Disease	p.GLY421GLU	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064781	Disease	p.HIS414ARG	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010185	Disease	p.HIS524ARG	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010184	Disease	p.HIS524GLN	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010173	Disease	p.HIS375TYR	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010188	Polymorphism	p.ILE768ASN	N/A
Swiss-Prot	VAR_010187	Disease	p.ILE533SER	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064774	Disease	p.ILE274THR	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064794	Disease	p.LEU891ARG	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064773	Disease	p.PHE242SER	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010177	Disease	p.PHE463SER	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064787	Disease	p.PRO495LEU	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_023958	Disease	p.PRO526LEU	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064792	Disease	p.PRO799LEU	Dent disease 2 (DD2)
Swiss-Prot	VAR_064793	Disease	p.PRO801LEU	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010183	Disease	p.SER522ARG	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064780	Disease	p.SER374PHE	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_064789	Disease	p.TRP503ARG	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_022699	Disease	p.TYR479CYS	Dent disease 2 (DD2)
Swiss-Prot	VAR_010182	Disease	p.TYR513CYS	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010181	Disease	p.VAL508ASP	Lowe oculocerebrorenal syndrome (OCRL)
Swiss-Prot	VAR_010172	Disease	p.VAL372GLY	Lowe oculocerebrorenal syndrome (OCRL)
OMIM	300535.0006	Disease	p.ARG301CYS	DENT DISEASE 2
OMIM	300535.0003	Disease	p.ARG577GLN	LOWE OCULOCEREBRORENAL SYNDROME
OMIM	300535.0007	Disease	p.ARG476TRP	DENT DISEASE 2
OMIM	300535.0004	Disease	p.HIS601GLN	LOWE OCULOCEREBRORENAL SYNDROME
OMIM	300535.0008	Disease	p.ILE526THR	DENT DISEASE 2
OMIM	300535.0005	Disease	p.TYR462CYS	DENT DISEASE 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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