Results for the protein: O75096

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LDLa	cd00112	1.2e-13	71	105
LDLa	cd00112	9.3e-13	110	143
LDLa	cd00112	3.4e-14	148	182
LDLa	cd00112	1.5e-12	191	225
LDLa	cd00112	1.1e-13	231	265
LDLa	cd00112	5e-17	270	304
LDLa	cd00112	5.2e-14	312	349
EGF	cd00053	4.7e-05	357	394
EGF_CA	cd00054	5.7e-10	395	434
EGF	cd00053	5.8e-06	398	434
EGF	cd00053	0.00017	1005	1044
EGF	cd00053	1e-05	1312	1349
Ldl_recept_a	pfam00057	1.1e-09	25	66
Ldl_recept_a	pfam00057	3.6e-16	69	105
Ldl_recept_a	pfam00057	9.9e-12	108	143
Ldl_recept_a	pfam00057	2.1e-15	146	182
Ldl_recept_a	pfam00057	5.5e-11	189	225
Ldl_recept_a	pfam00057	1.9e-12	229	265
Ldl_recept_a	pfam00057	2.1e-14	268	304
Ldl_recept_a	pfam00057	4.1e-11	310	349
EGF	pfam00008	0.00085	358	392
Ldl_recept_b	pfam00058	2.6e-07	480	519
Ldl_recept_b	pfam00058	7.2e-13	523	562
Ldl_recept_b	pfam00058	2.4e-10	566	606
Ldl_recept_b	pfam00058	2.3e-12	610	649
Ldl_recept_b	pfam00058	1.3e-08	785	824
Ldl_recept_b	pfam00058	2.6e-09	828	867
Ldl_recept_b	pfam00058	1.6e-11	871	911
Ldl_recept_b	pfam00058	2.3e-09	915	954
Ldl_recept_b	pfam00058	2.2e-05	956	995
EGF	pfam00008	0.00017	1006	1042
Ldl_recept_b	pfam00058	1.9e-09	1093	1132
Ldl_recept_b	pfam00058	1.2e-09	1136	1175
Ldl_recept_b	pfam00058	3e-14	1179	1219
EGF	pfam00008	6.5e-05	1313	1347
Ldl_recept_b	pfam00058	2.5e-05	1397	1436
Ldl_recept_b	pfam00058	2.4e-09	1440	1479
Ldl_recept_b	pfam00058	2.8e-13	1483	1523
Ldl_recept_b	pfam00058	0.00075	1527	1565
LDLa	smart00192	4.3e-10	26	63
LDLa	smart00192	1.1e-13	70	102
LDLa	smart00192	3.5e-13	109	141
LDLa	smart00192	2.8e-13	147	179
LDLa	smart00192	2.3e-12	190	222
LDLa	smart00192	2.1e-12	230	262
LDLa	smart00192	3.7e-15	269	301
LDLa	smart00192	1.3e-13	311	343
EGF	smart00181	1.3e-05	357	394
EGF_CA	pfam07645	3e-06	395	433
EGF_CA	smart00179	1e-11	395	434
EGF	smart00181	5.2e-07	398	434
LY	smart00135	9.1e-11	460	502
LY	smart00135	6.6e-18	503	545
LY	smart00135	7.9e-15	546	589
LY	smart00135	3.8e-17	590	632
LY	smart00135	1.2e-08	633	674
LY	smart00135	2.9e-09	765	807
LY	smart00135	7.6e-18	808	850
LY	smart00135	6.5e-12	851	894
LY	smart00135	3e-17	895	937
LY	smart00135	5.6e-07	938	979
EGF	smart00181	3.1e-05	1005	1044
LY	smart00135	1.4e-09	1073	1115
LY	smart00135	4.7e-14	1116	1158
LY	smart00135	4.1e-10	1159	1202
LY	smart00135	3.5e-11	1203	1245
LY	smart00135	0.00044	1246	1286
EGF	smart00181	2.8e-05	1312	1349
LY	smart00135	1.5e-07	1377	1419
LY	smart00135	9e-14	1420	1462
LY	smart00135	3.6e-15	1463	1506
LY	smart00135	1.3e-16	1507	1549
LY	smart00135	0.00061	1550	1590

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058292	Polymorphism	p.ALA1238THR	N/A
dbSNP	rs2306033	Polymorphism	p.ALA1203VAL	N/A
Swiss-Prot	VAR_057957	Polymorphism	p.ARG1646GLN	N/A
dbSNP	rs3816614	Polymorphism	p.ARG1646LEU	N/A
Swiss-Prot	VAR_066630	Disease	p.ARG1170TRP	Sclerosteosis 2 (SOST2)
Swiss-Prot	VAR_063776	Disease	p.ASP137ASN	Cenani-Lenz syndactyly syndrome (CLSS)
Swiss-Prot	VAR_063778	Disease	p.ASP449ASN	Cenani-Lenz syndactyly syndrome (CLSS)
Swiss-Prot	VAR_063781	Disease	p.ASP529ASN	Cenani-Lenz syndactyly syndrome (CLSS)
Swiss-Prot	VAR_063782	Disease	p.CYS1017ARG	Cenani-Lenz syndactyly syndrome (CLSS)
Swiss-Prot	VAR_063777	Disease	p.CYS160TYR	Cenani-Lenz syndactyly syndrome (CLSS)
dbSNP	rs6485702	Polymorphism	p.ILE1086VAL	N/A
Swiss-Prot	VAR_063780	Disease	p.LEU473PHE	Cenani-Lenz syndactyly syndrome (CLSS)
dbSNP	rs7926667	Polymorphism	p.LEU314SER	N/A
dbSNP	rs2306029	Polymorphism	p.SER1554GLY	N/A
Swiss-Prot	VAR_063779	Disease	p.THR461PRO	Cenani-Lenz syndactyly syndrome (CLSS)
Swiss-Prot	VAR_066631	Disease	p.TRP1186SER	Sclerosteosis 2 (SOST2)
OMIM	604270.0010	Disease	p.ARG1170TRP	SCLEROSTEOSIS 2
OMIM	604270.0002	Disease	p.ASP137ASN	CENANI-LENZ SYNDACTYLY SYNDROME
OMIM	604270.0005	Disease	p.ASP449ASN	CENANI-LENZ SYNDACTYLY SYNDROME
OMIM	604270.0001	Disease	p.ASP529ASN	CENANI-LENZ SYNDACTYLY SYNDROME
OMIM	604270.0004	Disease	p.CYS160TYR	CENANI-LENZ SYNDACTYLY SYNDROME
OMIM	604270.0006	Disease	p.THR461PRO	CENANI-LENZ SYNDACTYLY SYNDROME
OMIM	604270.0009	Disease	p.TRP1186SER	SCLEROSTEOSIS 2

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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