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Results for the Protein:
NP_001186930
317008611
4853
NOTCH2
NCBI
neurogenic locus notch homolog protein 2 isoform 2 precursor [Homo sapiens]
Known Diseases associated with this Protein:
ALAGILLE SYNDROME 2
1
2
1
2
0
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 - cd00054
EGF_CA - smart00179
EGF - smart00181
EGF - cd00053
EGF - pfam00008
EGF_CA - pfam07645
EGF_2 - pfam07974
RefSeq Protein:
NP_001186930
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
EGF
cd00053
7.8e-09
67
102
EGF_CA
cd00054
0.00027
105
143
EGF
cd00053
1.8e-09
108
143
EGF_CA
cd00054
4.5e-07
144
180
EGF
cd00053
3.1e-09
147
180
EGF_CA
cd00054
1.3e-15
182
219
EGF
cd00053
1.1e-12
185
219
EGF_CA
cd00054
7.6e-05
221
258
EGF
cd00053
1e-09
224
258
EGF_CA
cd00054
4.6e-10
260
296
EGF
cd00053
9.2e-09
263
296
EGF_CA
cd00054
6.1e-11
298
336
EGF
cd00053
4.5e-09
301
336
EGF_CA
cd00054
6e-09
338
374
EGF
cd00053
3.7e-06
341
374
EGF
cd00053
2.7e-07
378
413
EGF_CA
cd00054
1.3e-15
415
454
EGF
cd00053
1.5e-12
418
454
EGF_CA
cd00054
1.2e-16
456
492
EGF
cd00053
2.4e-13
459
492
EGF_CA
cd00054
3.7e-16
494
530
EGF
cd00053
2.4e-13
497
530
EGF_CA
cd00054
5.7e-15
532
568
EGF
cd00053
8.1e-12
535
568
EGF_CA
cd00054
1.5e-10
570
605
EGF
cd00053
7.8e-10
573
605
EGF_CA
cd00054
1.2e-13
607
643
EGF
cd00053
2e-10
610
643
EGF_CA
cd00054
2.4e-11
645
680
EGF
cd00053
5.3e-10
648
680
EGF_CA
cd00054
2.2e-13
682
718
EGF
cd00053
1.1e-08
685
718
EGF_CA
cd00054
4.2e-10
720
755
EGF
cd00053
4.3e-08
723
755
EGF_CA
cd00054
1.1e-15
757
793
EGF
cd00053
1.1e-12
760
793
EGF_CA
cd00054
1.7e-13
795
831
EGF
cd00053
7e-11
798
831
EGF_CA
cd00054
7.1e-06
833
871
EGF
cd00053
4.6e-10
836
871
EGF_CA
cd00054
1.2e-16
873
909
EGF
cd00053
5.7e-13
876
909
EGF_CA
cd00054
2.9e-15
911
947
EGF
cd00053
5.6e-12
914
947
EGF_CA
cd00054
1.2e-14
949
985
EGF
cd00053
6.2e-12
952
985
EGF_CA
cd00054
2.5e-13
987
1023
EGF
cd00053
2.5e-10
990
1023
EGF_CA
cd00054
7.1e-17
1025
1061
EGF
cd00053
3.8e-13
1028
1061
EGF_CA
cd00054
6.2e-06
1063
1099
EGF
cd00053
2.7e-07
1066
1099
EGF
cd00053
2.1e-08
1104
1147
EGF_CA
cd00054
2e-15
1149
1185
EGF
cd00053
1.7e-13
1152
1185
EGF_CA
cd00054
1.5e-09
1187
1219
EGF
cd00053
2.1e-08
1190
1233
EGF
pfam00008
3.1e-06
68
100
EGF
pfam00008
6e-08
109
141
EGF
pfam00008
2e-05
148
178
EGF
pfam00008
2.1e-08
186
217
EGF
pfam00008
2.6e-05
225
256
EGF
pfam00008
2e-06
264
294
EGF
pfam00008
1.6e-05
379
411
EGF
pfam00008
1.7e-07
419
452
EGF
pfam00008
6.3e-08
460
490
EGF
pfam00008
1.5e-08
498
528
EGF
pfam00008
8.4e-09
536
566
EGF
pfam00008
3.1e-06
574
603
EGF
pfam00008
2.1e-07
611
641
EGF
pfam00008
8.3e-09
649
678
EGF
pfam00008
0.00054
686
716
EGF
pfam00008
6.1e-05
724
753
EGF
pfam00008
7.8e-07
761
791
EGF
pfam00008
3e-09
799
829
EGF
pfam00008
4e-09
837
869
EGF
pfam00008
1.2e-07
877
907
EGF
pfam00008
7.7e-09
915
945
EGF
pfam00008
2.8e-08
953
983
EGF
pfam00008
3.9e-08
991
1021
EGF
pfam00008
2.2e-10
1029
1059
EGF
pfam00008
2.1e-05
1067
1097
EGF
pfam00008
0.00079
1116
1145
EGF
pfam00008
3.2e-09
1153
1183
EGF
pfam00008
8e-07
1191
1221
EGF_CA
smart00179
0.00068
64
102
EGF
smart00181
4.3e-08
67
102
EGF
smart00181
1.2e-08
108
143
EGF_CA
smart00179
0.00033
146
180
EGF
smart00181
1e-07
147
180
EGF_CA
pfam07645
9.1e-11
182
218
EGF_CA
smart00179
1.6e-16
182
219
EGF
smart00181
5.7e-12
185
219
EGF
smart00181
4e-08
224
258
EGF_CA
smart00179
0.001
225
258
EGF_CA
smart00179
4.1e-10
260
296
EGF
smart00181
1.5e-06
263
296
EGF_CA
pfam07645
2.2e-07
298
335
EGF_CA
smart00179
6e-11
298
336
EGF
smart00181
4.9e-08
301
336
EGF_CA
smart00179
4.1e-09
338
374
EGF
smart00181
0.00014
341
374
EGF
smart00181
3.5e-05
378
413
EGF_CA
pfam07645
1.5e-07
415
453
EGF_CA
smart00179
1.7e-16
415
454
EGF
smart00181
1.1e-10
418
454
EGF_CA
pfam07645
1.2e-07
456
491
EGF_CA
smart00179
2e-16
456
492
EGF
smart00181
2.7e-11
459
492
EGF_CA
smart00179
7.8e-16
494
530
EGF
smart00181
2.8e-11
497
530
EGF_CA
smart00179
7e-15
532
568
EGF
smart00181
5.3e-10
535
568
EGF_CA
smart00179
6.7e-10
570
605
EGF
smart00181
9.5e-09
573
605
EGF_CA
smart00179
6.7e-13
607
643
EGF
smart00181
7.5e-09
610
643
EGF_CA
smart00179
6.9e-11
645
680
EGF
smart00181
1.5e-08
648
680
EGF_CA
pfam07645
0.00014
682
717
EGF_CA
smart00179
4.9e-14
682
718
EGF
smart00181
8.3e-07
685
718
EGF_CA
smart00179
1e-09
720
755
EGF
smart00181
4.2e-07
723
755
EGF_CA
smart00179
9e-16
757
793
EGF
smart00181
4.9e-11
760
793
EGF_CA
smart00179
6.5e-13
795
831
EGF
smart00181
4.2e-09
798
831
EGF
smart00181
6e-09
836
871
EGF_CA
pfam07645
1.3e-08
873
908
EGF_CA
smart00179
6.2e-17
873
909
EGF
smart00181
1.3e-11
876
909
EGF_CA
smart00179
5.1e-15
911
947
EGF
smart00181
2e-09
914
947
EGF_CA
smart00179
3.5e-14
949
985
EGF
smart00181
3.5e-10
952
985
EGF_CA
smart00179
1.2e-13
987
1023
EGF
smart00181
5.1e-09
990
1023
EGF_CA
smart00179
1.8e-16
1025
1061
EGF
smart00181
1.1e-11
1028
1061
EGF_2
pfam07974
0.00086
1029
1060
EGF
smart00181
3.1e-05
1066
1099
EGF_2
pfam07974
0.00051
1067
1098
EGF
smart00181
1.9e-08
1104
1147
EGF_CA
smart00179
2e-15
1149
1185
EGF_CA
pfam07645
4.6e-05
1150
1184
EGF
smart00181
7.1e-12
1152
1185
EGF_CA
smart00179
1.8e-12
1187
1223
EGF
smart00181
5.8e-08
1190
1228
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs139076095
Polymorphism
p.ALA21THR
N/A
dbSNP
rs11810554
Polymorphism
p.CYS19TRP
N/A
OMIM
600275.0002
Disease
p.CYS444TYR
ALAGILLE SYNDROME 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.
DMDM_info@umbc.edu
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