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	2.7e-13	109	143
LDLa	cd00112	1.5e-10	149	186
EGF_CA	cd00054	1.1e-06	182	226
EGF	cd00053	7.3e-09	190	226
EGF_CA	cd00054	5.5e-13	227	266
EGF	cd00053	1.4e-08	230	266
Ldl_recept_a	pfam00057	9.8e-17	25	63
Ldl_recept_a	pfam00057	2e-16	66	104
Ldl_recept_a	pfam00057	2.9e-16	107	143
Ldl_recept_a	pfam00057	8.4e-15	147	186
EGF	pfam00008	6.3e-06	191	224
Ldl_recept_b	pfam00058	2.8e-15	312	355
Ldl_recept_b	pfam00058	1.4e-14	359	398
Ldl_recept_b	pfam00058	7.8e-15	402	442
Ldl_recept_b	pfam00058	8.5e-15	446	487
Ldl_recept_b	pfam00058	2.3e-09	489	528
LDLa	smart00192	1.5e-12	26	58
LDLa	smart00192	1.7e-12	67	101
LDLa	smart00192	6.4e-13	108	140
LDLa	smart00192	1.2e-09	148	181
EGF_CA	smart00179	2.1e-06	187	226
EGF	smart00181	4.2e-10	190	226
EGF_CA	pfam07645	2e-09	227	265
EGF_CA	smart00179	4.1e-14	227	266
EGF	smart00181	9.5e-09	230	266
LY	smart00135	4e-12	339	381
LY	smart00135	2.4e-11	382	425
LY	smart00135	7.2e-15	426	468
LY	smart00135	5.1e-06	469	512

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11669576	Polymorphism	p.ALA264THR	N/A
OMIM	606945.0010	Disease	p.ALA283THR	FH ALGERIA
OMIM	606945.0065	Disease	p.ARG258ARG	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0008	Disease	p.ASP156ASN	FH DENVER 2
OMIM	606945.0050	Disease	p.ASP285HIS	FH OSAKA 3
OMIM	606945.0059	Disease	p.CYS113PHE	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0061	Disease	p.CYS25SER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0062	Disease	p.CYS88SER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0016	Disease	p.CYS533TER	FH LEBANESE
OMIM	606945.0015	Disease	p.CYS519TYR	FH FRENCH CANADIAN 2
OMIM	606945.0001	Disease	p.GLN12TER	FH TURKEY
OMIM	606945.0012	Disease	p.GLY398ASP	FH SAINT OMER
OMIM	606945.0013	Disease	p.GLY401ASP	FH GENOA
OMIM	606945.0052	Disease	p.GLY645ASP	FH TURKU
OMIM	606945.0014	Disease	p.GLY417VAL	FH NAPLES
OMIM	606945.0053	Disease	p.LEU253HIS	FH PORI
OMIM	606945.0003	Disease	p.TRP66GLY	FH FRENCH CANADIAN 4
OMIM	606945.0060	Disease	p.TRP23TER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0018	Disease	p.TRP614TER	FH BAHRAIN
OMIM	606945.0019	Disease	p.TYR629CYS	FH BARI\|\|FH SYRIA
OMIM	606945.0009	Disease	p.VAL281MET	FH AFRIKANER 2
OMIM	606945.0011	Disease	p.VAL375MET	FH KUWAIT

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