Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LDLa	cd00112	1.2e-12	68	104
LDLa	cd00112	3.4e-14	109	143
LDLa	cd00112	7.8e-14	148	184
LDLa	cd00112	3.1e-14	197	231
LDLa	cd00112	2.7e-13	236	270
LDLa	cd00112	1.5e-10	276	313
EGF_CA	cd00054	1.1e-06	309	353
EGF	cd00053	7.3e-09	317	353
EGF_CA	cd00054	5.5e-13	354	393
EGF	cd00053	1.4e-08	357	393
Ldl_recept_a	pfam00057	9.8e-17	25	63
Ldl_recept_a	pfam00057	2e-16	66	104
Ldl_recept_a	pfam00057	4.4e-16	107	143
Ldl_recept_a	pfam00057	9.5e-19	146	184
Ldl_recept_a	pfam00057	2.3e-17	195	231
Ldl_recept_a	pfam00057	2.9e-16	234	270
Ldl_recept_a	pfam00057	8.4e-15	274	313
EGF	pfam00008	6.3e-06	318	351
Ldl_recept_b	pfam00058	2.8e-15	439	482
Ldl_recept_b	pfam00058	1.4e-14	486	525
Ldl_recept_b	pfam00058	7.8e-15	529	569
Ldl_recept_b	pfam00058	8.5e-15	573	614
Ldl_recept_b	pfam00058	2.3e-09	616	655
LDLa	smart00192	1.5e-12	26	58
LDLa	smart00192	1.7e-12	67	101
LDLa	smart00192	8.9e-14	108	140
LDLa	smart00192	4.1e-14	147	179
LDLa	smart00192	5.1e-13	196	228
LDLa	smart00192	6.4e-13	235	267
LDLa	smart00192	1.2e-09	275	308
EGF_CA	smart00179	2.1e-06	314	353
EGF	smart00181	4.2e-10	317	353
EGF_CA	pfam07645	2e-09	354	392
EGF_CA	smart00179	4.1e-14	354	393
EGF	smart00181	9.5e-09	357	393
LY	smart00135	4e-12	466	508
LY	smart00135	2.4e-11	509	552
LY	smart00135	7.2e-15	553	595
LY	smart00135	5.1e-06	596	639

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11669576	Polymorphism	p.ALA391THR	N/A
OMIM	606945.0010	Disease	p.ALA410THR	FH ALGERIA
OMIM	606945.0065	Disease	p.ARG385ARG	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0044	Disease	p.ASP154ASN	FH AFRIKANER 3
OMIM	606945.0022	Disease	p.ASP203ASN	FH PORTUGAL
OMIM	606945.0008	Disease	p.ASP283ASN	FH DENVER 2
OMIM	606945.0006	Disease	p.ASP206GLU	FH AFRIKANER 1\|\|FH MAINE
OMIM	606945.0050	Disease	p.ASP412HIS	FH OSAKA 3
OMIM	606945.0059	Disease	p.CYS240PHE	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0061	Disease	p.CYS25SER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0062	Disease	p.CYS88SER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0048	Disease	p.CYS210TER	FH LONDON 3
OMIM	606945.0016	Disease	p.CYS660TER	FH LEBANESE
OMIM	606945.0058	Disease	p.CYS163TYR	FH GLASCO
OMIM	606945.0015	Disease	p.CYS646TYR	FH FRENCH CANADIAN 2
OMIM	606945.0001	Disease	p.GLN12TER	FH TURKEY
OMIM	606945.0007	Disease	p.GLU207LYS	FH MEXICO\|\|FH FRENCH CANADIAN 3
OMIM	606945.0012	Disease	p.GLY525ASP	FH SAINT OMER
OMIM	606945.0013	Disease	p.GLY528ASP	FH GENOA
OMIM	606945.0052	Disease	p.GLY823ASP	FH TURKU
OMIM	606945.0066	Disease	p.GLY186GLY	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0014	Disease	p.GLY544VAL	FH NAPLES
OMIM	606945.0053	Disease	p.LEU380HIS	FH PORI
OMIM	606945.0017	Disease	p.PRO664LEU	FH ZAMBIA
OMIM	606945.0004	Disease	p.SER156LEU	FH PUERTO RICO
OMIM	606945.0003	Disease	p.TRP66GLY	FH FRENCH CANADIAN 4
OMIM	606945.0060	Disease	p.TRP23TER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0018	Disease	p.TRP792TER	FH BAHRAIN
OMIM	606945.0019	Disease	p.TYR807CYS	FH BARI\|\|FH SYRIA
OMIM	606945.0045	Disease	p.TYR167TER	FH DRUZE
OMIM	606945.0009	Disease	p.VAL408MET	FH AFRIKANER 2
OMIM	606945.0011	Disease	p.VAL502MET	FH KUWAIT

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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