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Results for the Protein:
P46531
206729936
4851
NOTCH1
NCBI
,
UniProt
NOTC1_HUMAN RecName: Full=Neurogenic locus notch homolog protein 1; Short=Notch 1; Short=hN1; AltName: Full=Translocation-associated notch protein TAN-1; Contains: RecName: Full=Notch 1 extracellular truncation; Contains: RecName: Full=Notch 1 intracellular domain; Short=NICD; Flags: Precursor
Known Diseases associated with this Protein:
AORTIC VALVE DISEASE 1
1
3
1
0
3
Tips:
The Domains on the Default View are decided by the Domain's E-Value.
Clicking a check box will display or hide the correlated domain.
To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.
Default View:
EGF_CA - smart00179
EGF_CA - cd00054
EGF - cd00053
EGF - smart00181
EGF - pfam00008
EGF_2 - pfam07974
EGF_CA - pfam07645
NL - smart00004
Notch - pfam00066
NOD - pfam06816
NODP - pfam07684
Arp - COG0666
ANK - cd00204
Ank - pfam00023
ANK - smart00248
DUF3454 - pfam11936
Swiss-Prot Protein:
P46531
Identical to:
NP_060087
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
EGF
cd00053
1.9e-05
62
99
EGF_CA
cd00054
1.1e-06
102
139
EGF
cd00053
5.9e-10
105
139
EGF_CA
cd00054
4.2e-10
140
176
EGF
cd00053
1.2e-09
143
176
EGF_CA
cd00054
2.6e-14
178
216
EGF
cd00053
1e-09
181
216
EGF_CA
cd00054
2.5e-05
218
255
EGF
cd00053
4.2e-10
221
255
EGF_CA
cd00054
4e-09
257
293
EGF
cd00053
1e-07
260
293
EGF_CA
cd00054
4.2e-15
295
333
EGF
cd00053
2.7e-11
298
333
EGF_CA
cd00054
2.8e-11
335
371
EGF
cd00053
2.1e-08
338
371
EGF
cd00053
0.00035
375
410
EGF_CA
cd00054
2.4e-17
412
450
EGF
cd00053
3.5e-13
415
450
EGF_CA
cd00054
4.5e-16
452
488
EGF
cd00053
5.9e-13
455
488
EGF_CA
cd00054
4.1e-13
490
526
EGF
cd00053
7.6e-12
493
526
EGF_CA
cd00054
3.1e-16
528
564
EGF
cd00053
3.5e-12
531
564
EGF_CA
cd00054
1.2e-13
566
601
EGF
cd00053
4.1e-10
569
601
EGF_CA
cd00054
5.5e-12
603
639
EGF
cd00053
4.9e-09
606
639
EGF_CA
cd00054
1.6e-10
641
676
EGF
cd00053
1.8e-09
644
676
EGF_CA
cd00054
1.3e-13
678
714
EGF
cd00053
1.5e-11
681
714
EGF_CA
cd00054
9e-12
716
751
EGF
cd00053
1.2e-09
719
751
EGF_CA
cd00054
4.2e-11
753
789
EGF
cd00053
1e-11
756
789
EGF_CA
cd00054
1.8e-14
791
827
EGF
cd00053
1.8e-11
794
827
EGF_CA
cd00054
2.5e-06
829
867
EGF
cd00053
1.9e-09
832
867
EGF_CA
cd00054
1.5e-16
869
905
EGF
cd00053
1.9e-11
872
905
EGF_CA
cd00054
3.4e-12
907
943
EGF
cd00053
1.5e-09
910
943
EGF_CA
cd00054
1.9e-14
945
981
EGF
cd00053
1e-10
948
981
EGF_CA
cd00054
3.9e-11
983
1019
EGF
cd00053
2.2e-11
986
1019
EGF_CA
cd00054
2.1e-13
1021
1057
EGF
cd00053
7.5e-11
1024
1057
EGF_CA
cd00054
2.4e-07
1059
1095
EGF
cd00053
8.6e-10
1062
1095
EGF
cd00053
4.9e-09
1100
1143
EGF_CA
cd00054
1.5e-13
1145
1181
EGF
cd00053
1.4e-11
1148
1181
EGF_CA
cd00054
3.5e-16
1183
1219
EGF
cd00053
1.6e-12
1186
1219
EGF_CA
cd00054
1.4e-10
1221
1265
EGF
cd00053
9.5e-11
1224
1265
EGF_CA
cd00054
9.7e-11
1267
1305
EGF
cd00053
1.8e-06
1270
1305
EGF_CA
cd00054
1.8e-05
1307
1346
EGF
cd00053
1.1e-07
1310
1346
EGF
cd00053
2.5e-05
1351
1384
EGF
cd00053
0.00029
1390
1426
Arp
COG0666
2.6e-19
1809
2101
ANK
cd00204
1.9e-30
1875
2015
ANK
cd00204
7.8e-16
2022
2150
EGF
pfam00008
7.9e-05
63
97
EGF
pfam00008
1.5e-07
106
137
EGF
pfam00008
3.2e-07
144
174
EGF
pfam00008
3.5e-08
222
253
EGF
pfam00008
1.1e-06
261
291
EGF
pfam00008
3.8e-06
299
331
EGF
pfam00008
1.5e-05
339
369
EGF
pfam00008
1.4e-08
416
448
EGF
pfam00008
1.7e-07
456
486
EGF
pfam00008
5.1e-09
494
524
EGF
pfam00008
4.2e-09
532
562
EGF
pfam00008
5.6e-06
570
599
EGF
pfam00008
5.6e-07
607
637
EGF
pfam00008
6e-06
645
674
EGF
pfam00008
1.4e-07
682
712
EGF
pfam00008
1.1e-06
720
749
EGF
pfam00008
3.7e-06
757
787
EGF
pfam00008
1.7e-08
795
825
EGF
pfam00008
3.9e-07
833
865
EGF
pfam00008
2.9e-07
873
903
EGF
pfam00008
5.2e-06
911
941
EGF
pfam00008
1.1e-05
949
979
EGF
pfam00008
2.6e-08
987
1017
EGF
pfam00008
2.9e-08
1025
1055
EGF
pfam00008
1.5e-08
1063
1093
EGF
pfam00008
4.9e-08
1149
1179
EGF
pfam00008
2.6e-08
1187
1217
EGF
pfam00008
0.00018
1225
1263
EGF
pfam00008
7.5e-06
1271
1303
EGF
pfam00008
1.7e-05
1311
1344
EGF
pfam00008
0.00011
1352
1382
Notch
pfam00066
5.6e-12
1444
1480
Notch
pfam00066
8.3e-17
1485
1522
Notch
pfam00066
1.7e-15
1523
1562
Ank
pfam00023
2.1e-13
1880
1925
Ank
pfam00023
1.3e-07
1927
1959
Ank
pfam00023
8.9e-06
1994
2026
Ank
pfam00023
1.7e-05
2027
2059
Ank
pfam00023
0.00011
2060
2092
EGF_CA
smart00179
0.00071
59
99
EGF
smart00181
3.9e-05
62
99
EGF
smart00181
2.7e-09
105
139
EGF_2
pfam07974
1.1e-05
106
138
EGF_CA
smart00179
4.8e-09
140
176
EGF
smart00181
1.6e-08
143
176
EGF_2
pfam07974
0.00034
144
175
EGF_CA
pfam07645
1.4e-06
178
215
EGF_CA
smart00179
2.5e-15
178
216
EGF
smart00181
2.9e-09
181
216
EGF
smart00181
7.4e-09
221
255
EGF_CA
smart00179
0.00075
222
255
EGF_CA
smart00179
4.6e-09
257
293
EGF
smart00181
1.3e-05
260
293
EGF_CA
pfam07645
6.3e-10
295
332
EGF_CA
smart00179
1.6e-15
295
333
EGF
smart00181
1.8e-10
298
333
EGF_CA
smart00179
8.3e-12
335
371
EGF
smart00181
3.7e-07
338
371
EGF_CA
pfam07645
6.3e-13
412
449
EGF_CA
smart00179
2.4e-18
412
450
EGF
smart00181
9.3e-13
415
450
EGF_CA
pfam07645
1e-05
452
487
EGF_CA
smart00179
6.5e-16
452
488
EGF
smart00181
2.1e-11
455
488
EGF_CA
smart00179
2.4e-13
490
526
EGF
smart00181
2.4e-10
493
526
EGF_CA
smart00179
3.3e-16
528
564
EGF
smart00181
2.7e-10
531
564
EGF_CA
smart00179
1.4e-13
566
601
EGF
smart00181
4.7e-08
569
601
EGF_CA
smart00179
1.4e-12
603
639
EGF
smart00181
9.2e-08
606
639
EGF_CA
smart00179
1.5e-10
641
676
EGF
smart00181
1.1e-07
644
676
EGF_CA
smart00179
5.5e-14
678
714
EGF
smart00181
3.8e-10
681
714
EGF_CA
smart00179
2.4e-11
716
751
EGF
smart00181
2.4e-08
719
751
EGF_CA
smart00179
2e-10
753
789
EGF
smart00181
4.3e-10
756
789
EGF_CA
smart00179
6.3e-14
791
827
EGF
smart00181
2.8e-09
794
827
EGF
smart00181
2.1e-08
832
867
EGF_CA
smart00179
0.00047
833
867
EGF_CA
pfam07645
1.2e-08
869
904
EGF_CA
smart00179
2.2e-17
869
905
EGF
smart00181
1.1e-10
872
905
EGF_CA
smart00179
1.5e-11
907
943
EGF
smart00181
4.8e-08
910
943
EGF_CA
smart00179
1.2e-14
945
981
EGF
smart00181
4.5e-08
948
981
EGF_CA
smart00179
2.8e-09
983
1019
EGF
smart00181
9e-10
986
1019
EGF_CA
smart00179
6.4e-14
1021
1057
EGF
smart00181
1.3e-09
1024
1057
EGF
smart00181
2e-08
1062
1095
EGF_CA
smart00179
0.00022
1063
1095
EGF
smart00181
1.2e-09
1100
1143
EGF_CA
smart00179
3.4e-11
1146
1181
EGF
smart00181
5.3e-10
1148
1181
EGF_CA
smart00179
2.4e-16
1183
1219
EGF
smart00181
4.6e-11
1186
1219
EGF_CA
smart00179
2.3e-10
1221
1265
EGF
smart00181
9.2e-09
1224
1265
EGF_CA
smart00179
1e-10
1267
1305
EGF
smart00181
2.8e-06
1270
1305
EGF_CA
smart00179
0.0008
1308
1346
EGF
smart00181
3.4e-06
1310
1346
NL
smart00004
4.3e-15
1442
1479
NL
smart00004
3.9e-17
1483
1521
NL
smart00004
5.7e-17
1522
1561
NOD
pfam06816
2.3e-35
1566
1621
NODP
pfam07684
1.5e-32
1670
1731
ANK
smart00248
0.00038
1927
1956
ANK
smart00248
7.8e-05
2027
2056
ANK
smart00248
0.00026
2060
2089
DUF3454
pfam11936
2.8e-30
2478
2541
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_048990
Polymorphism
p.ARG879TRP
N/A
Swiss-Prot
VAR_034898
Polymorphism
p.GLN300ARG
N/A
Swiss-Prot
VAR_046618
Polymorphism
p.VAL1671ILE
N/A
OMIM
190198.0001
Disease
p.ARG1108TER
AORTIC VALVE DISEASE 1
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.
DMDM_info@umbc.edu
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