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Results for the Protein:
O75147
327478605
23363
OBSL1
NCBI
,
UniProt
OBSL1_HUMAN RecName: Full=Obscurin-like protein 1
Known Diseases associated with this Protein:
THREE M SYNDROME 2
2
5
2
5
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:
Ig3_Contactin_like - cd04968
I-set - pfam07679
Ig8_MLCK - cd05762
Ig3_NCAM-1_like - cd05730
Ig1_NCAM-2 - cd05866
Ig_Semaphorin_C - cd04979
Ig_C5_MyBP-C - cd05894
IG - smart00409
IG_like - smart00410
Ig2_Robo - cd05724
Ig2_FGFR_like - cd05729
Ig4_Contactin-2-like - cd05728
Ig2_FGFRL1-like - cd05856
IGc2 - smart00408
Ig3_Peroxidasin - cd05745
Ig5_Contactin_like - cd04969
ig - pfam00047
Ig4_L1-NrCAM_like - cd04978
Ig4_Robo - cd05726
Ig_2 - cd05764
Ig_3 - cd05765
Ig4_Neogenin - cd05723
Ig_Titin_like - cd05748
Ig2_Follistatin_like - cd05736
Ig3_Robo - cd05725
Ig - cd00096
Ig_Myotilin_C_like - cd05744
Ig4_Peroxidasin - cd05746
Ig2_PTK7 - cd05760
Ig_1 - cd05763
Ig_Palladin_C - cd05893
Ig1_Robo - cd07693
Ig1_Neogenin - cd05722
Ig2_FGFR - cd05857
Ig4_L1-CAM_like - cd05867
Ig3_L1-CAM_like - cd05731
FN3 - cd00063
FN3 - smart00060
Ig_Pro_neuregulin - cd05750
Ig_Sema4B_like - cd05872
V-set - pfam07686
Swiss-Prot Protein:
O75147
Identical to:
NP_056126
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Ig3_NCAM-1_like
cd05730
0.00099
12
104
Ig8_MLCK
cd05762
0.00055
12
106
Ig1_NCAM-2
cd05866
0.00053
15
103
Ig_Semaphorin_C
cd04979
0.00013
16
104
Ig_C5_MyBP-C
cd05894
3e-05
17
101
Ig2_Robo
cd05724
1.6e-07
18
101
Ig2_FGFR_like
cd05729
2.6e-06
18
101
Ig4_Contactin-2-like
cd05728
4.2e-05
21
101
Ig2_FGFRL1-like
cd05856
5.8e-06
21
101
Ig3_Peroxidasin
cd05745
2.6e-06
25
101
Ig5_Contactin_like
cd04969
8e-05
26
101
Ig4_L1-NrCAM_like
cd04978
3.1e-05
26
102
Ig4_Robo
cd05726
0.00014
26
110
Ig_2
cd05764
0.00032
26
101
Ig_3
cd05765
3.8e-06
26
101
Ig4_Neogenin
cd05723
4.9e-05
28
101
Ig_Titin_like
cd05748
2.6e-05
28
101
Ig
cd00096
8.7e-11
29
100
Ig3_Robo
cd05725
1.6e-06
29
101
Ig2_Follistatin_like
cd05736
0.00038
29
104
Ig_Myotilin_C_like
cd05744
0.0005
29
101
Ig4_Peroxidasin
cd05746
9.2e-07
29
100
Ig2_PTK7
cd05760
0.00071
29
106
Ig_1
cd05763
2e-10
29
102
Ig_Palladin_C
cd05893
3.1e-05
29
101
Ig1_Robo
cd07693
3.8e-07
127
227
Ig1_Neogenin
cd05722
0.00085
129
226
Ig2_Robo
cd05724
4.7e-07
132
226
Ig2_FGFR_like
cd05729
0.00015
134
226
Ig2_FGFRL1-like
cd05856
0.0002
136
226
Ig4_Contactin-2-like
cd05728
0.00024
137
226
Ig3_Peroxidasin
cd05745
0.0001
141
226
Ig5_Contactin_like
cd04969
0.0001
142
226
Ig4_L1-NrCAM_like
cd04978
2.2e-05
142
227
Ig4_Neogenin
cd05723
0.00023
144
226
Ig
cd00096
5.9e-09
145
225
Ig3_Robo
cd05725
2.1e-05
145
226
Ig4_Peroxidasin
cd05746
1.4e-05
145
225
Ig3_Contactin_like
cd04968
0.0002
243
337
Ig2_FGFR_like
cd05729
4.6e-07
252
336
Ig1_Robo
cd07693
4.1e-06
252
337
Ig2_FGFR
cd05857
1.4e-05
253
336
Ig3_Peroxidasin
cd05745
2.7e-07
259
336
Ig4_L1-NrCAM_like
cd04978
2.8e-05
260
337
Ig_2
cd05764
2.1e-05
260
336
Ig_3
cd05765
6.4e-05
260
336
Ig4_L1-CAM_like
cd05867
0.00085
260
337
Ig
cd00096
1e-08
263
333
Ig3_Robo
cd05725
1.2e-05
263
336
Ig2_PTK7
cd05760
0.00086
263
339
Ig_1
cd05763
1.8e-06
263
337
Ig_Palladin_C
cd05893
0.0009
263
336
Ig4_Neogenin
cd05723
2.7e-05
265
336
Ig3_L1-CAM_like
cd05731
0.00016
267
337
FN3
cd00063
3.1e-07
518
610
Ig_Semaphorin_C
cd04979
0.00016
809
897
Ig
cd00096
9.4e-06
825
893
Ig_Semaphorin_C
cd04979
0.0005
901
988
Ig
cd00096
4.7e-07
916
984
Ig_Pro_neuregulin
cd05750
0.00091
916
983
Ig_Semaphorin_C
cd04979
0.00029
994
1079
Ig
cd00096
2e-05
1002
1075
Ig
cd00096
3.4e-08
1099
1167
Ig_Semaphorin_C
cd04979
2.1e-25
1178
1267
Ig_Sema4B_like
cd05872
0.00071
1178
1263
Ig
cd00096
3.6e-06
1377
1445
Ig_Semaphorin_C
cd04979
0.0001
1633
1724
Ig
cd00096
5.4e-07
1646
1715
Ig
cd00096
0.00011
1826
1894
ig
pfam00047
3.8e-06
26
86
ig
pfam00047
0.00059
142
211
ig
pfam00047
8.8e-06
731
790
ig
pfam00047
6.9e-06
822
881
ig
pfam00047
8.9e-06
1096
1155
ig
pfam00047
3.4e-07
1374
1433
ig
pfam00047
1.7e-07
1643
1702
I-set
pfam07679
2.7e-25
12
101
IG
smart00409
3.9e-15
18
102
IG_like
smart00410
3.9e-15
18
102
IGc2
smart00408
1.2e-10
25
91
I-set
pfam07679
4.4e-11
128
226
IG
smart00409
7.9e-14
134
227
IG_like
smart00410
7.9e-14
134
227
IGc2
smart00408
1.1e-10
141
216
I-set
pfam07679
9.7e-15
251
336
IG
smart00409
3.9e-14
252
337
IG_like
smart00410
3.9e-14
252
337
IGc2
smart00408
1.1e-07
259
326
I-set
pfam07679
2.2e-06
341
426
IG
smart00409
2.7e-05
347
427
IG_like
smart00410
2.7e-05
347
427
FN3
smart00060
1.8e-05
518
601
IG
smart00409
0.00015
723
804
IG_like
smart00410
0.00015
723
804
I-set
pfam07679
0.00033
726
801
I-set
pfam07679
0.00012
900
983
IGc2
smart00408
5.4e-07
912
977
IG
smart00409
0.0002
996
1077
IG_like
smart00410
0.0002
996
1077
I-set
pfam07679
0.00028
1091
1164
IGc2
smart00408
1.2e-05
1095
1160
I-set
pfam07679
2.3e-05
1174
1262
IG
smart00409
1e-07
1180
1263
IG_like
smart00410
1e-07
1180
1263
IGc2
smart00408
1.9e-05
1187
1252
IG
smart00409
7.4e-06
1276
1355
IG_like
smart00410
7.4e-06
1276
1355
I-set
pfam07679
5.1e-08
1360
1444
IG
smart00409
7.6e-09
1366
1445
IG_like
smart00410
7.6e-09
1366
1445
I-set
pfam07679
1.7e-06
1449
1535
IG
smart00409
2.6e-05
1455
1543
IG_like
smart00410
2.6e-05
1455
1543
I-set
pfam07679
6.4e-05
1540
1624
I-set
pfam07679
1.5e-08
1629
1714
IG
smart00409
4.7e-12
1635
1715
IG_like
smart00410
4.7e-12
1635
1715
IGc2
smart00408
5.1e-06
1642
1707
I-set
pfam07679
1.4e-06
1719
1803
IG
smart00409
1.4e-05
1725
1804
IG_like
smart00410
1.4e-05
1725
1804
I-set
pfam07679
2.9e-06
1808
1893
IG
smart00409
5.3e-12
1815
1894
IG_like
smart00410
5.3e-12
1815
1894
V-set
pfam07686
0.00062
1817
1893
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs35009641
Polymorphism
p.ARG368CYS
N/A
dbSNP
rs1039898
Polymorphism
p.ARG723LYS
N/A
dbSNP
rs10932814
Polymorphism
p.GLN1578ARG
N/A
dbSNP
rs1983210
Polymorphism
p.GLU1365ASP
N/A
dbSNP
rs115283876
Polymorphism
p.LEU1317GLN
N/A
OMIM
610991.0005
Disease
p.ARG489TER
THREE M SYNDROME 2
OMIM
610991.0002
Disease
p.CYS383TER
THREE M 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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