Results for the protein: Q9UM47

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	4.1e-09	42	77
EGF_CA	cd00054	1.1e-08	119	156
EGF	cd00053	9.4e-10	122	156
EGF_CA	cd00054	3.2e-18	158	195
EGF	cd00053	2e-13	161	195
EGF_CA	cd00054	0.00012	197	234
EGF	cd00053	1.9e-09	200	234
EGF_CA	cd00054	3e-10	236	272
EGF	cd00053	1e-08	239	272
EGF_CA	cd00054	3.5e-14	274	312
EGF	cd00053	7.9e-11	277	312
EGF_CA	cd00054	1e-10	314	350
EGF	cd00053	2.1e-08	317	350
EGF	cd00053	1.9e-06	354	389
EGF_CA	cd00054	3.7e-15	391	429
EGF	cd00053	6.2e-11	394	429
EGF_CA	cd00054	5.7e-16	431	467
EGF	cd00053	3.5e-12	434	467
EGF_CA	cd00054	4.1e-16	469	505
EGF	cd00053	1.8e-12	472	505
EGF_CA	cd00054	1e-14	507	543
EGF	cd00053	7.3e-12	510	543
EGF_CA	cd00054	5.7e-14	545	580
EGF	cd00053	9.3e-12	548	580
EGF_CA	cd00054	2.5e-12	582	618
EGF	cd00053	1.6e-10	585	618
EGF_CA	cd00054	5.5e-10	620	655
EGF	cd00053	1.1e-07	623	655
EGF_CA	cd00054	1.3e-11	657	693
EGF	cd00053	2.2e-08	660	693
EGF_CA	cd00054	1.9e-07	695	730
EGF	cd00053	6.2e-10	698	730
EGF_CA	cd00054	7.8e-07	734	770
EGF	cd00053	1e-06	737	770
EGF	cd00053	1.2e-07	774	808
EGF_CA	cd00054	1.8e-14	810	847
EGF	cd00053	2.6e-10	813	847
EGF_CA	cd00054	1.1e-14	849	885
EGF	cd00053	1.6e-11	852	885
EGF_CA	cd00054	1.2e-14	887	922
EGF	cd00053	8.5e-11	890	922
EGF_CA	cd00054	5.9e-13	924	960
EGF	cd00053	4.3e-12	927	960
EGF_CA	cd00054	4.3e-07	962	998
EGF	cd00053	1.7e-07	965	998
EGF_CA	cd00054	1.7e-05	1000	1034
EGF	cd00053	4.8e-08	1003	1034
EGF	cd00053	3.8e-07	1039	1082
EGF_CA	cd00054	7.1e-11	1084	1120
EGF	cd00053	3.8e-09	1087	1120
EGF_CA	cd00054	4.8e-15	1122	1158
EGF	cd00053	5.4e-11	1125	1158
EGF_CA	cd00054	4.1e-11	1160	1203
EGF	cd00053	8e-11	1163	1203
EGF_CA	cd00054	1.6e-07	1205	1244
EGF	cd00053	2.4e-05	1208	1244
EGF	cd00053	0.00015	1249	1287
EGF	cd00053	3.4e-08	1338	1373
Arp	COG0666	6e-18	1737	2027
ANK	cd00204	1.1e-14	1743	1892
ANK	cd00204	3.5e-29	1900	2025
EGF	pfam00008	9.2e-08	43	75
EGF	pfam00008	2.1e-07	123	154
EGF	pfam00008	4.7e-08	162	193
EGF	pfam00008	4.9e-06	201	232
EGF	pfam00008	5e-07	240	270
EGF	pfam00008	2.2e-06	278	310
EGF	pfam00008	7.6e-05	318	348
EGF	pfam00008	1.5e-05	355	387
EGF	pfam00008	5.3e-08	395	427
EGF	pfam00008	3.6e-06	435	465
EGF	pfam00008	2.3e-06	473	503
EGF	pfam00008	1.3e-07	511	541
EGF	pfam00008	1.6e-08	549	578
EGF	pfam00008	3.3e-07	586	616
EGF	pfam00008	0.00046	624	653
EGF	pfam00008	1.7e-06	699	728
EGF	pfam00008	0.00019	738	768
EGF	pfam00008	8.7e-08	775	806
EGF	pfam00008	3.3e-09	853	883
EGF	pfam00008	1.4e-07	928	958
EGF	pfam00008	2.3e-05	966	996
EGF	pfam00008	1.4e-07	1004	1032
EGF	pfam00008	7.2e-06	1088	1118
EGF	pfam00008	1.5e-06	1126	1156
EGF	pfam00008	7.6e-06	1164	1201
EGF	pfam00008	0.0004	1250	1285
EGF	pfam00008	3e-07	1339	1371
Notch	pfam00066	5.1e-15	1382	1418
Notch	pfam00066	9e-15	1423	1459
Notch	pfam00066	5e-15	1462	1501
Ank	pfam00023	7.2e-16	1788	1836
Ank	pfam00023	5.5e-09	1838	1870
Ank	pfam00023	9.7e-05	1905	1937
Ank	pfam00023	8.7e-05	1938	1970
Ank	pfam00023	0.00023	1971	2003
EGF	smart00181	1.5e-08	42	77
EGF_CA	smart00179	0.00042	121	156
EGF	smart00181	3.8e-09	122	156
EGF_CA	pfam07645	1.9e-10	158	194
EGF_CA	smart00179	4.2e-19	158	195
EGF	smart00181	9.4e-13	161	195
EGF	smart00181	6e-08	200	234
EGF_CA	smart00179	0.00083	201	234
EGF_CA	smart00179	2.2e-10	236	272
EGF	smart00181	2.3e-06	239	272
EGF_CA	pfam07645	3.4e-09	274	311
EGF_CA	smart00179	2.1e-14	274	312
EGF	smart00181	1.3e-10	277	312
EGF_CA	smart00179	2.8e-11	314	350
EGF	smart00181	2.6e-07	317	350
EGF	smart00181	5.2e-05	354	389
EGF_CA	pfam07645	2.1e-09	391	428
EGF_CA	smart00179	7.4e-16	391	429
EGF	smart00181	4.2e-11	394	429
EGF_CA	pfam07645	2.4e-05	431	466
EGF_CA	smart00179	5.9e-16	431	467
EGF	smart00181	1.1e-10	434	467
EGF_CA	smart00179	4.1e-16	469	505
EGF	smart00181	2.4e-10	472	505
EGF_CA	pfam07645	0.001	507	542
EGF_CA	smart00179	9.1e-15	507	543
EGF	smart00181	2.6e-10	510	543
EGF_CA	smart00179	5.9e-14	545	580
EGF	smart00181	1.9e-10	548	580
EGF_CA	smart00179	1.7e-12	582	618
EGF	smart00181	4.3e-09	585	618
EGF_CA	smart00179	2.9e-10	620	655
EGF	smart00181	2.2e-06	623	655
EGF_CA	smart00179	7.2e-12	657	693
EGF	smart00181	3.9e-07	660	693
EGF	smart00181	9e-09	698	730
EGF_CA	smart00179	3.1e-05	699	730
EGF_CA	smart00179	0.00077	734	770
EGF	smart00181	1.4e-05	737	770
EGF	smart00181	7e-07	774	808
EGF_CA	pfam07645	3.8e-08	810	846
EGF_CA	smart00179	1.6e-14	810	847
EGF	smart00181	4.6e-08	813	847
EGF_CA	smart00179	1.7e-14	849	885
EGF	smart00181	7.6e-10	852	885
EGF_CA	smart00179	6.4e-15	887	922
EGF	smart00181	1.1e-08	890	922
EGF_CA	smart00179	4.8e-11	924	960
EGF	smart00181	9.3e-10	927	960
EGF_CA	smart00179	3.9e-06	962	998
EGF	smart00181	2.5e-06	965	998
EGF_CA	smart00179	0.00039	1001	1034
EGF	smart00181	2.6e-08	1003	1034
EGF	smart00181	3.5e-09	1039	1082
EGF_CA	smart00179	0.001	1051	1082
EGF_CA	smart00179	4.3e-10	1084	1120
EGF	smart00181	1e-07	1087	1120
EGF_CA	smart00179	1.6e-15	1122	1158
EGF	smart00181	1.1e-09	1125	1158
EGF_CA	smart00179	5.4e-11	1160	1203
EGF	smart00181	2.9e-10	1169	1203
EGF_CA	smart00179	3.9e-07	1205	1244
EGF	smart00181	0.00025	1249	1287
EGF	smart00181	8.6e-07	1338	1373
NL	smart00004	5.6e-16	1380	1417
NL	smart00004	1.4e-17	1421	1458
NL	smart00004	1e-17	1460	1500
NOD	pfam06816	1.6e-27	1505	1560
NODP	pfam07684	9.6e-32	1576	1639
ANK	smart00248	1.3e-05	1838	1867
ANK	smart00248	0.00026	1938	1967
ANK	smart00248	0.00041	1971	2000
DUF3454	pfam11936	2.9e-11	2208	2275

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044288	Disease	p.ALA319CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
dbSNP	rs35769976	Polymorphism	p.ALA1020PRO	N/A
dbSNP	rs1044009	Polymorphism	p.ALA2223VAL	N/A
Swiss-Prot	VAR_012895	Disease	p.ARG1006CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012896	Disease	p.ARG1031CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012874	Disease	p.ARG110CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012899	Disease	p.ARG1231CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012876	Disease	p.ARG133CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012877	Disease	p.ARG141CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012879	Disease	p.ARG153CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012880	Disease	p.ARG169CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012883	Disease	p.ARG182CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044278	Disease	p.ARG207CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044289	Disease	p.ARG332CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044295	Disease	p.ARG421CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044301	Disease	p.ARG449CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044232	Disease	p.ARG54CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044307	Disease	p.ARG544CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012891	Disease	p.ARG558CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012892	Disease	p.ARG578CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044309	Disease	p.ARG607CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012893	Disease	p.ARG728CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012873	Disease	p.ARG90CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012894	Disease	p.ARG985CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044279	Disease	p.ARG213LYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044316	Disease	p.ASP1063CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044313	Disease	p.CYS1015ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012900	Disease	p.CYS1261ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012878	Disease	p.CYS146ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044264	Disease	p.CYS174ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044268	Disease	p.CYS183ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012884	Disease	p.CYS185ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044273	Disease	p.CYS194ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044285	Disease	p.CYS245ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044286	Disease	p.CYS251ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044293	Disease	p.CYS395ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044299	Disease	p.CYS440ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044302	Disease	p.CYS455ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044306	Disease	p.CYS511ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044236	Disease	p.CYS76ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044240	Disease	p.CYS87ARG	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044270	Disease	p.CYS185GLY	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012886	Disease	p.CYS222GLY	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044230	Disease	p.CYS43GLY	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044298	Disease	p.CYS440GLY	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044247	Disease	p.CYS117PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044249	Disease	p.CYS123PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044254	Disease	p.CYS144PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044263	Disease	p.CYS174PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044267	Disease	p.CYS183PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044272	Disease	p.CYS194PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044303	Disease	p.CYS484PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044231	Disease	p.CYS49PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044242	Disease	p.CYS93PHE	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044255	Disease	p.CYS144SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044261	Disease	p.CYS155SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044262	Disease	p.CYS162SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044269	Disease	p.CYS183SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044274	Disease	p.CYS194SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012885	Disease	p.CYS212SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044281	Disease	p.CYS233SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044284	Disease	p.CYS240SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044292	Disease	p.CYS379SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044296	Disease	p.CYS428SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044300	Disease	p.CYS446SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044234	Disease	p.CYS65SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044310	Disease	p.CYS775SER	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044244	Disease	p.CYS106TRP	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044245	Disease	p.CYS108TRP	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044252	Disease	p.CYS134TRP	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044237	Disease	p.CYS76TRP	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044246	Disease	p.CYS108TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044250	Disease	p.CYS123TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044317	Disease	p.CYS1261TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044251	Disease	p.CYS128TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044256	Disease	p.CYS144TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044265	Disease	p.CYS174TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044275	Disease	p.CYS194TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044276	Disease	p.CYS201TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044277	Disease	p.CYS206TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044280	Disease	p.CYS222TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012887	Disease	p.CYS224TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044282	Disease	p.CYS233TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044287	Disease	p.CYS260TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044297	Disease	p.CYS428TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044304	Disease	p.CYS484TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012871	Disease	p.CYS49TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044305	Disease	p.CYS495TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012890	Disease	p.CYS542TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044308	Disease	p.CYS549TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044235	Disease	p.CYS67TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044241	Disease	p.CYS87TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044243	Disease	p.CYS93TYR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044258	Disease	p.GLY149CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012882	Disease	p.GLY171CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044294	Disease	p.GLY420CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044311	Disease	p.GLY953CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012881	Polymorphism	p.HIS170ARG	N/A
Swiss-Prot	VAR_012897	Polymorphism	p.HIS1133GLN	N/A
Swiss-Prot	VAR_044318	Polymorphism	p.LEU1515PRO	N/A
Swiss-Prot	VAR_069927	Disease	p.LEU1519PRO	Myofibromatosis, infantile 2 (IMF2)
Swiss-Prot	VAR_044253	Disease	p.PHE142CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044312	Disease	p.PHE984CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
dbSNP	rs114447350	Polymorphism	p.PRO2074LEU	N/A
Swiss-Prot	VAR_012889	Polymorphism	p.PRO496LEU	N/A
Swiss-Prot	VAR_044248	Disease	p.SER118CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044257	Disease	p.SER145CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044266	Disease	p.SER180CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044290	Disease	p.SER335CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044233	Disease	p.SER60CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012872	Disease	p.TRP71CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044315	Disease	p.TYR1021CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044259	Disease	p.TYR150CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044271	Disease	p.TYR189CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_012888	Disease	p.TYR258CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
Swiss-Prot	VAR_044291	Disease	p.TYR337CYS	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
dbSNP	rs10408676	Polymorphism	p.VAL1183MET	N/A
OMIM	600276.0010	Disease	p.ALA1020PRO	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0008	Disease	p.ARG133CYS	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0002	Disease	p.ARG169CYS	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0003	Disease	p.ARG182CYS	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0007	Disease	p.ARG332CYS	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0006	Disease	p.CYS455ARG	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0011	Disease	p.CYS428SER	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	600276.0012	Disease	p.LEU1519PRO	MYOFIBROMATOSIS, INFANTILE, 2 (1 family)
OMIM	600276.0001	Disease	p.TRP71CYS	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY

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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