Results for the protein: P07225

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	6.8e-05	120	155
EGF_CA	cd00054	4.8e-09	157	200
EGF	cd00053	5.7e-07	160	200
EGF_CA	cd00054	8.5e-13	201	242
EGF	cd00053	6.3e-08	204	242
EGF_CA	cd00054	1.9e-11	243	283
EGF	cd00053	3.2e-06	246	283
LamG	cd00110	1.9e-24	303	456
Gla	pfam00594	1.2e-16	46	87
EGF	pfam00008	2.9e-05	121	153
EGF	pfam00008	3.6e-05	205	238
Laminin_G_1	pfam00054	5.5e-42	329	459
Laminin_G_2	pfam02210	4.3e-13	329	458
Laminin_G_2	pfam02210	3.1e-06	514	647
GLA	smart00069	1.3e-35	23	86
EGF_CA	smart00179	0.00069	119	155
EGF	smart00181	5.4e-05	120	155
EGF_CA	pfam07645	0.00032	157	199
EGF_CA	smart00179	1.1e-10	157	200
EGF	smart00181	1.5e-08	160	200
EGF_CA	pfam07645	1.4e-08	201	241
EGF_CA	smart00179	9.1e-13	201	242
EGF	smart00181	1.2e-07	204	242
EGF_CA	smart00179	4e-13	243	283
EGF	smart00181	1.4e-07	246	283
LamG	smart00282	1.4e-21	321	458

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046809	Disease	p.ALA68ASP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046868	Disease	p.ALA525PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046879	Disease	p.ALA616PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046819	Disease	p.ARG101CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046865	Disease	p.ARG515CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046814	Disease	p.ARG90CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_014119	Disease	p.ARG561GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046849	Disease	p.ARG355HIS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046805	Disease	p.ARG41HIS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046815	Disease	p.ARG90HIS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
dbSNP	rs7614835	Polymorphism	p.ARG40LEU	N/A
Swiss-Prot	VAR_046804	Disease	p.ARG40LEU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046832	Disease	p.ARG233LYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046866	Disease	p.ARG515PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046820	Disease	p.ARG111SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046875	Polymorphism	p.ASN583HIS	N/A
Swiss-Prot	VAR_046828	Polymorphism	p.ASN168SER	N/A
Swiss-Prot	VAR_005567	Disease	p.ASN258SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046827	Disease	p.ASN166TYR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046834	Disease	p.ASP243ASN	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046852	Disease	p.ASP376ASN	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046822	Disease	p.ASP129GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046825	Disease	p.ASP157GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046835	Disease	p.ASP245GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046838	Disease	p.CYS265ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046860	Disease	p.CYS475ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046890	Disease	p.CYS666ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046826	Disease	p.CYS161GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046836	Disease	p.CYS247GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046829	Disease	p.CYS175PHE	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046884	Disease	p.CYS639PHE	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046833	Disease	p.CYS241SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046841	Disease	p.CYS267SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046859	Disease	p.CYS449SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046839	Disease	p.CYS265TRP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046821	Disease	p.CYS121TYR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046830	Disease	p.CYS186TYR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046873	Disease	p.CYS568TYR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046885	Disease	p.CYS639TYR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046813	Disease	p.CYS88TYR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046808	Disease	p.GLU67ALA	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046831	Disease	p.GLU204GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_035981	Polymorphism	p.GLU545GLY	N/A
Swiss-Prot	VAR_046837	Disease	p.GLU249LYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046857	Disease	p.GLU390LYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046850	Disease	p.GLY357ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046817	Disease	p.GLY95ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046844	Disease	p.GLY336ASP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046853	Disease	p.GLY381ASP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046807	Disease	p.GLY52ASP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046867	Disease	p.GLY521ASP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046883	Disease	p.GLY638ASP	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_014116	Disease	p.GLY482CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046816	Disease	p.GLY95GLU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046845	Disease	p.GLY336SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046846	Disease	p.GLY336VAL	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046854	Disease	p.GLY381VAL	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046888	Disease	p.HIS664PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046872	Polymorphism	p.ILE562LEU	N/A
Swiss-Prot	VAR_014118	Polymorphism	p.ILE559MET	N/A
Swiss-Prot	VAR_046887	Disease	p.ILE644SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046861	Polymorphism	p.ILE495VAL	N/A
Swiss-Prot	VAR_046874	Disease	p.LEU575ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046880	Disease	p.LEU622ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046876	Disease	p.LEU584GLN	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046802	Disease	p.LEU15HIS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046842	Disease	p.LEU300PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046847	Disease	p.LEU339PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046848	Disease	p.LEU351PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046858	Disease	p.LEU446PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046869	Disease	p.LEU526SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046871	Disease	p.LEU552SER	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_005566	Disease	p.LYS196GLU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046851	Disease	p.LYS364GLU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046806	Disease	p.LYS50GLU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046877	Disease	p.MET611LYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046878	Disease	p.MET611THR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046886	Disease	p.MET640THR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046856	Polymorphism	p.MET385VAL	N/A
Swiss-Prot	VAR_046810	Disease	p.PHE72CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046891	Disease	p.PRO667LEU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046811	Polymorphism	p.PRO76LEU	N/A
Swiss-Prot	VAR_046862	Disease	p.SER501ALA	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046889	Disease	p.SER665LEU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046843	Disease	p.SER324PRO	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_005568	Polymorphism	p.SER501PRO	N/A
Swiss-Prot	VAR_046870	Disease	p.THR532ALA	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046823	Disease	p.THR144ASN	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046881	Disease	p.THR630ILE	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_014666	Disease	p.THR78MET	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046818	Polymorphism	p.THR98SER	N/A
Swiss-Prot	VAR_046855	Disease	p.TRP383ARG	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046824	Disease	p.TRP149CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_067302	Disease	p.TYR234CYS	Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)
Swiss-Prot	VAR_046840	Disease	p.TYR266CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_014117	Disease	p.TYR485CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046882	Disease	p.TYR636CYS	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046803	Disease	p.VAL18GLU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046863	Disease	p.VAL508GLY	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046812	Disease	p.VAL87LEU	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Swiss-Prot	VAR_046864	Disease	p.VAL508MET	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
OMIM	176880.0009	Disease	p.ARG355CYS	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	176880.0008	Disease	p.ARG520GLY	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	176880.0011	Disease	p.ARG410TER	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM	176880.0002	Disease	p.ASN217SER	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	176880.0007	Disease	p.GLN238TER	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	176880.0003	Disease	p.LYS155GLU	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
OMIM	176880.0001	Disease	p.SER460PRO	PROTEIN S HEERLEN
OMIM	176880.0012	Disease	p.TYR234CYS	THROMBOPHILIA DUE TO PROTEIN S 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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