Results for the protein: P00751

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CCP	cd00033	7.8e-16	165	219
vWA_collagen_alpha_1	cd01480	0.00022	267	460
vWFA	cd00198	4.9e-30	269	453
vWA_integrins_alpha_	cd01469	0.00032	269	464
vWA_complement_facto	cd01470	1.4e-127	269	466
vWA_micronemal_prote	cd01471	1.2e-05	269	469
vWA_collagen	cd01472	0.00046	269	458
vWFA_subfamily_ECM	cd01450	2.1e-53	269	453
Tryp_SPc	cd00190	1.1e-52	482	755
Sushi	pfam00084	5.2e-10	103	158
Sushi	pfam00084	9e-10	165	218
VWA	pfam00092	5.1e-51	270	468
Trypsin	pfam00089	1.3e-67	481	752
CCP	smart00032	8.9e-17	103	158
CCP	smart00032	1.9e-15	165	218
VWA	smart00327	1.1e-33	268	473
Tryp_SPc	smart00020	3.3e-41	481	752

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006495	Polymorphism	p.ALA736SER	N/A
Swiss-Prot	VAR_063660	Disease	p.ARG203GLN	Hemolytic uremic syndrome atypical 4 (AHUS4)
dbSNP	rs641153	Polymorphism	p.ARG32GLN	N/A
dbSNP	rs12614	Polymorphism	p.ARG32TRP	N/A
dbSNP	rs4151660	Polymorphism	p.ASP651GLU	N/A
dbSNP	rs4151651	Polymorphism	p.GLY252SER	N/A
Swiss-Prot	VAR_063661	Disease	p.ILE242LEU	Hemolytic uremic syndrome atypical 4 (AHUS4)
dbSNP	rs4151667	Polymorphism	p.LEU9HIS	N/A
Swiss-Prot	VAR_063664	Disease	p.LYS533ARG	Hemolytic uremic syndrome atypical 4 (AHUS4)
Swiss-Prot	VAR_063662	Disease	p.LYS323GLN	Hemolytic uremic syndrome atypical 4 (AHUS4)
Swiss-Prot	VAR_063222	Disease	p.LYS323GLU	Hemolytic uremic syndrome atypical 4 (AHUS4)
dbSNP	rs4151659	Polymorphism	p.LYS565GLU	N/A
Swiss-Prot	VAR_063663	Disease	p.MET458ILE	Hemolytic uremic syndrome atypical 4 (AHUS4)
Swiss-Prot	VAR_063221	Disease	p.PHE286LEU	Hemolytic uremic syndrome atypical 4 (AHUS4)
Swiss-Prot	VAR_063659	Disease	p.SER166PRO	Hemolytic uremic syndrome atypical 4 (AHUS4)
Swiss-Prot	VAR_006492	Polymorphism	p.TRP28ARG	N/A
Swiss-Prot	VAR_006493	Polymorphism	p.TRP28GLN	N/A
OMIM	138470.0004	Disease	p.ARG32GLN	MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
OMIM	138470.0001	Polymorphism	p.ARG8GLN	FACTOR B FAST-SLOW POLYMORPHISM\|\|BF*FA/S
OMIM	138470.0002	Polymorphism	p.ARG8TRP	FACTOR B FAST-SLOW POLYMORPHISM\|\|BF*FB/S
OMIM	138470.0007	Disease	p.GLN256TER	COMPLEMENT FACTOR B DEFICIENCY (1 family)
OMIM	138470.0003	Disease	p.LEU9HIS	MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
OMIM	138470.0006	Disease	p.LYS323GLU	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
OMIM	138470.0005	Disease	p.PHE286LEU	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4

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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