Results for the protein: P04070

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	3.4e-08	100	132
Tryp_SPc	cd00190	3.1e-99	212	448
Gla	pfam00594	8.1e-17	47	88
EGF	pfam00008	0.00012	101	130
Trypsin	pfam00089	7.1e-93	212	445
GLA	smart00069	1.4e-34	24	87
EGF_CA	smart00179	1.4e-08	88	132
EGF	smart00181	5.9e-06	100	132
EGF	smart00181	0.00011	139	176
Tryp_SPc	smart00020	3.3e-93	211	445

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006660	Disease	p.ALA178PRO	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)
Swiss-Prot	VAR_006682	Polymorphism	p.ALA301THR	N/A
Swiss-Prot	VAR_006684	Polymorphism	p.ALA309THR	N/A
Swiss-Prot	VAR_006698	Polymorphism	p.ALA388THR	N/A
Swiss-Prot	VAR_006639	Polymorphism	p.ALA43THR	N/A
Swiss-Prot	VAR_006683	Polymorphism	p.ALA301VAL	N/A
Swiss-Prot	VAR_006699	Polymorphism	p.ALA388VAL	N/A
Swiss-Prot	VAR_006663	Polymorphism	p.ARG194CYS	N/A
Swiss-Prot	VAR_006677	Disease	p.ARG272CYS	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006635	Disease	p.ARG32CYS	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006689	Disease	p.ARG328CYS	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006638	Polymorphism	p.ARG42CYS	N/A
Swiss-Prot	VAR_006641	Polymorphism	p.ARG51CYS	N/A
Swiss-Prot	VAR_006666	Polymorphism	p.ARG211GLN	N/A
Swiss-Prot	VAR_006669	Disease	p.ARG220GLN	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006675	Polymorphism	p.ARG271GLN	N/A
Swiss-Prot	VAR_006644	Polymorphism	p.ARG57GLN	N/A
Swiss-Prot	VAR_006643	Polymorphism	p.ARG57GLY	N/A
Swiss-Prot	VAR_006690	Disease	p.ARG328HIS	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)
Swiss-Prot	VAR_006637	Polymorphism	p.ARG42HIS	N/A
Swiss-Prot	VAR_006667	Polymorphism	p.ARG220PRO	N/A
Swiss-Prot	VAR_055074	Disease	p.ARG42SER	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006662	Polymorphism	p.ARG189TRP	N/A
Swiss-Prot	VAR_006665	Disease	p.ARG211TRP	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006668	Disease	p.ARG220TRP	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006676	Polymorphism	p.ARG271TRP	N/A
Swiss-Prot	VAR_006636	Polymorphism	p.ARG38TRP	N/A
Swiss-Prot	VAR_006701	Polymorphism	p.ARG394TRP	N/A
Swiss-Prot	VAR_006642	Disease	p.ARG57TRP	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006681	Polymorphism	p.ASN298ASP	N/A
Swiss-Prot	VAR_006702	Disease	p.ASP401ASN	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006661	Polymorphism	p.CYS183ARG	N/A
Swiss-Prot	VAR_006657	Polymorphism	p.CYS147TYR	N/A
Swiss-Prot	VAR_006705	Disease	p.CYS426TYR	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006670	Polymorphism	p.GLN226HIS	N/A
Swiss-Prot	VAR_006645	Disease	p.GLU62ALA	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006640	Polymorphism	p.GLU49ASP	N/A
Swiss-Prot	VAR_006649	Polymorphism	p.GLY109ARG	N/A
Swiss-Prot	VAR_006651	Disease	p.GLY114ARG	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006656	Disease	p.GLY145ARG	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006688	Disease	p.GLY324ARG	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006700	Disease	p.GLY392ARG	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006693	Polymorphism	p.GLY343ASP	N/A
Swiss-Prot	VAR_006703	Disease	p.GLY418ASP	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)
Swiss-Prot	VAR_006647	Polymorphism	p.GLY89CYS	N/A
Swiss-Prot	VAR_006691	Disease	p.GLY334SER	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)
Swiss-Prot	VAR_006704	Disease	p.GLY423SER	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006706	Polymorphism	p.GLY433SER	N/A
Swiss-Prot	VAR_006648	Polymorphism	p.HIS108ASN	N/A
Swiss-Prot	VAR_006673	Polymorphism	p.HIS253GLN	N/A
Swiss-Prot	VAR_006658	Polymorphism	p.HIS149PRO	N/A
Swiss-Prot	VAR_006672	Polymorphism	p.HIS244TYR	N/A
Swiss-Prot	VAR_006710	Polymorphism	p.ILE445MET	N/A
Swiss-Prot	VAR_006671	Disease	p.ILE243THR	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006674	Polymorphism	p.LEU265PHE	N/A
Swiss-Prot	VAR_006697	Polymorphism	p.MET385ILE	N/A
Swiss-Prot	VAR_006652	Polymorphism	p.PHE118LEU	N/A
Swiss-Prot	VAR_006664	Disease	p.PRO210LEU	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006679	Disease	p.PRO289LEU	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)
Swiss-Prot	VAR_006687	Disease	p.PRO321LEU	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006696	Disease	p.PRO369LEU	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006659	Polymorphism	p.SER161ARG	N/A
Swiss-Prot	VAR_006680	Polymorphism	p.SER294ASN	N/A
Swiss-Prot	VAR_006685	Polymorphism	p.SER312LEU	N/A
Swiss-Prot	VAR_006686	Polymorphism	p.SER312PRO	N/A
Swiss-Prot	VAR_006707	Disease	p.THR436ASN	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006692	Disease	p.THR340MET	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006709	Disease	p.TRP444CYS	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006634	Polymorphism	p.TRP14GLY	N/A
Swiss-Prot	VAR_006708	Disease	p.TYR441HIS	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
Swiss-Prot	VAR_006695	Disease	p.VAL367ALA	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)
Swiss-Prot	VAR_006646	Disease	p.VAL76MET	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)
OMIM	612283.0007	Disease	p.ALA267THR	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0005	Disease	p.ALA259VAL	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0016	Disease	p.ARG230CYS	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0014	Disease	p.ARG178GLN	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0001	Disease	p.ARG306TER	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0003	Disease	p.ARG12TRP	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0004	Disease	p.ARG169TRP	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT\|\|THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECE
OMIM	612283.0013	Disease	p.ARG178TRP	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0019	Disease	p.GLN184HIS	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0009	Disease	p.GLU20ALA	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0011	Disease	p.GLY292SER	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0008	Disease	p.GLY301SER	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0024	Disease	p.HIS107PRO	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0021	Disease	p.ILE403MET	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0020	Disease	p.LEU223PHE	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0006	Disease	p.PRO168LEU	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0012	Disease	p.PRO247LEU	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	612283.0025	Disease	p.SER270LEU	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0002	Disease	p.TRP402CYS	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0022	Disease	p.VAL297MET	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	612283.0010	Disease	p.VAL34MET	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

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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