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Results for the Protein:
NP_001166879
291084513
23363
OBSL1
NCBI
obscurin-like protein 1 isoform 3 precursor [Homo sapiens]
Known Diseases associated with this Protein:
THREE M SYNDROME 2
2
2
2
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:
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
Ig4_Peroxidasin - cd05746
Ig_Myotilin_C_like - cd05744
Ig_1 - cd05763
Ig2_PTK7 - cd05760
Ig_Palladin_C - cd05893
Ig1_Robo - cd07693
Ig1_Neogenin - cd05722
Ig2_FGFR - cd05857
Ig4_L1-CAM_like - cd05867
Ig3_L1-CAM_like - cd05731
FN3 - smart00060
FN3 - cd00063
Ig_Pro_neuregulin - cd05750
RefSeq Protein:
NP_001166879
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
Ig_1
cd05763
2e-10
29
102
Ig2_PTK7
cd05760
0.00071
29
106
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
Ig_1
cd05763
1.8e-06
263
337
Ig2_PTK7
cd05760
0.00086
263
339
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
cd00096
4.7e-07
916
984
Ig_Pro_neuregulin
cd05750
0.00091
916
983
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
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
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
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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