Results for the protein: P08709

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	8.2e-10	109	142
Tryp_SPc	cd00190	4.5e-94	213	450
Gla	pfam00594	7.8e-19	65	106
EGF	pfam00008	7.6e-06	110	140
Trypsin	pfam00089	1.1e-63	213	447
GLA	smart00069	3.1e-35	42	105
EGF_CA	smart00179	1.1e-09	106	142
EGF	smart00181	8.4e-08	109	142
Tryp_SPc	smart00020	1.7e-94	212	447

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065389	Disease	p.ALA251PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065390	Disease	p.ALA251THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015140	Disease	p.ALA266THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014416	Disease	p.ALA304THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_013122	Polymorphism	p.ALA352THR	N/A
Swiss-Prot	VAR_065425	Disease	p.ALA429THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006508	Disease	p.ALA304VAL	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006511	Disease	p.ALA354VAL	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014417	Disease	p.ARG307CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065401	Disease	p.ARG337CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065405	Disease	p.ARG350CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006498	Disease	p.ARG139GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006505	Disease	p.ARG212GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065400	Disease	p.ARG326GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006514	Disease	p.ARG364GLN	Factor VII deficiency (FA7D)
dbSNP	rs6046	Polymorphism	p.ARG413GLN	N/A
Swiss-Prot	VAR_065420	Disease	p.ARG413GLY	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065374	Disease	p.ARG88GLY	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006509	Disease	p.ARG307HIS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006497	Disease	p.ARG139LYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065375	Disease	p.ARG88PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006499	Disease	p.ARG139TRP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006507	Disease	p.ARG283TRP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065408	Disease	p.ARG364TRP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065409	Disease	p.ARG375TRP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065376	Disease	p.ASN117ASP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065382	Disease	p.ASP183ASN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065393	Disease	p.ASP272ASN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065394	Disease	p.ASP277ASN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014415	Disease	p.ASP302ASN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065415	Disease	p.ASP398GLU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014414	Disease	p.ASP302HIS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015144	Disease	p.ASP403HIS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014412	Disease	p.CYS195ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065391	Disease	p.CYS254ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065371	Disease	p.CYS82ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014392	Disease	p.CYS389GLY	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014407	Disease	p.CYS121PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006515	Disease	p.CYS370PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065370	Disease	p.CYS82PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014410	Disease	p.CYS151SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006506	Disease	p.CYS238TYR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015139	Disease	p.CYS254TYR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006502	Disease	p.GLN160ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014406	Disease	p.GLU79GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015137	Disease	p.GLU154LYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006510	Disease	p.GLU325LYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_013123	Polymorphism	p.GLU445LYS	N/A
Swiss-Prot	VAR_065373	Disease	p.GLU85LYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065423	Disease	p.GLY425ALA	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065380	Disease	p.GLY177ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065387	Disease	p.GLY240ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006516	Disease	p.GLY402ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065377	Disease	p.GLY138ASP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015138	Disease	p.GLY216ASP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065426	Disease	p.GLY432ASP	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006501	Disease	p.GLY157CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065414	Disease	p.GLY391CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065421	Disease	p.GLY414CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065424	Disease	p.GLY425CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006517	Disease	p.GLY402GLU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014420	Disease	p.GLY435GLU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065378	Disease	p.GLY156SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006500	Disease	p.GLY157SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065402	Disease	p.GLY343SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065404	Disease	p.GLY345SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014419	Disease	p.GLY391SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014411	Disease	p.GLY157VAL	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065419	Disease	p.HIS408ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065396	Disease	p.HIS301GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065418	Disease	p.HIS408GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065386	Disease	p.ILE198THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065399	Disease	p.LEU323ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014405	Disease	p.LEU73GLN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065398	Disease	p.LEU321PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014408	Disease	p.LEU125PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014391	Disease	p.LEU13PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065381	Disease	p.LEU181PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065392	Disease	p.LEU264PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065406	Disease	p.LEU360PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065397	Disease	p.LEU314VAL	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006504	Disease	p.LYS197GLU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065416	Disease	p.LYS401GLU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006512	Disease	p.MET358ILE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065411	Disease	p.MET387THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006513	Disease	p.MET358VAL	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065412	Disease	p.MET387VAL	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015135	Disease	p.PHE64LEU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065413	Disease	p.PHE388SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015143	Disease	p.PRO363ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065407	Disease	p.PRO363HIS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065385	Disease	p.PRO194LEU	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065384	Disease	p.PRO189SER	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006503	Disease	p.PRO194THR	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065417	Disease	p.SER404ASN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065379	Disease	p.SER171PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065383	Disease	p.SER186PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065388	Disease	p.SER250PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015136	Disease	p.SER120PRO	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014413	Disease	p.THR241ASN	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065395	Disease	p.THR298ILE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014418	Disease	p.THR332MET	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065410	Disease	p.THR384MET	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_006519	Disease	p.THR419MET	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_018671	Polymorphism	p.THR367SER	N/A
Swiss-Prot	VAR_065403	Disease	p.TRP344ARG	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_014409	Disease	p.TYR128CYS	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065427	Disease	p.TYR437PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_013936	Polymorphism	p.VAL295ASP	N/A
Swiss-Prot	VAR_015141	Disease	p.VAL312MET	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_015142	Disease	p.VAL341PHE	Factor VII deficiency (FA7D)
Swiss-Prot	VAR_065422	Disease	p.VAL422PHE	Factor VII deficiency (FA7D)
OMIM	613878.0006	Disease	p.ALA244VAL	FACTOR VII DEFICIENCY
OMIM	613878.0010	Disease	p.ALA294VAL	FACTOR VII DEFICIENCY
OMIM	613878.0001	Disease	p.ARG304GLN	FACTOR VII PADUA
OMIM	613878.0014	Disease	p.ARG353GLN	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
OMIM	613878.0004	Disease	p.ARG247HIS	FACTOR VII DEFICIENCY
OMIM	613878.0007	Disease	p.ASN57ASP	FACTOR VII DEFICIENCY
OMIM	613878.0019	Disease	p.CYS329GLY	FACTOR VII DEFICIENCY
OMIM	613878.0002	Disease	p.CYS310PHE	FACTOR VII DEFICIENCY
OMIM	613878.0018	Disease	p.CYS61TER	FACTOR VII DEFICIENCY
OMIM	613878.0003	Disease	p.CYS178TYR	FACTOR VII DEFICIENCY
OMIM	613878.0020	Disease	p.GLN211TER	FACTOR VII DEFICIENCY
OMIM	613878.0021	Disease	p.GLU25LYS	FACTOR VII DEFICIENCY
OMIM	613878.0023	Disease	p.GLY354CYS	FACTOR VII DEFICIENCY
OMIM	613878.0022	Disease	p.HIS348GLN	FACTOR VII DEFICIENCY
OMIM	613878.0024	Disease	p.PHE328SER	FACTOR VII DEFICIENCY
OMIM	613878.0005	Disease	p.THR359MET	FACTOR VII DEFICIENCY

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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