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Results for the Protein:
Q4KMG0
308153422
50937
CDON
NCBI
,
UniProt
CDON_HUMAN RecName: Full=Cell adhesion molecule-related/down-regulated by oncogenes; Flags: Precursor
Known Diseases associated with this Protein:
HOLOPROSENCEPHALY 11
HOLOPROSENCEPHALY 11 (HPE11)
10
4
4
0
10
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:
Ig1_Robo - cd07693
Ig1_Contactin - cd04967
I-set - pfam07679
Ig1_Neogenin - cd05722
Ig2_Robo - cd05724
Ig_CEACAM_D4 - cd05740
IG - smart00409
IG_like - smart00410
IGc2 - smart00408
ig - pfam00047
Ig - cd00096
Ig5_Contactin_like - cd04969
Ig3_Contactin_like - cd04968
Ig3_NCAM-1_like - cd05730
C1-set - pfam07654
Ig2_FGFR - cd05857
Ig2_FGFR_like - cd05729
Ig2_FGFRL1-like - cd05856
Ig4_Neogenin - cd05723
Ig2_Follistatin_like - cd05736
Ig3_L1-CAM_like - cd05731
Ig_Pro_neuregulin - cd05750
Ig_1 - cd05763
Ig3_L1-CAM - cd05876
Ig5_Titin_like - cd05747
Ig3_Contactin-1 - cd05851
Ig_Myomesin_like_C - cd05737
Ig_M-protein_C - cd05891
Ig4_Contactin-2-like - cd05728
Ig_2 - cd05764
Ig4_L1-NrCAM_like - cd04978
Ig3_Peroxidasin - cd05745
Ig4_Robo - cd05726
Ig4_Peroxidasin - cd05746
Ig3_Robo - cd05725
Ig5_NCAM-1_like - cd05732
Ig5_NCAM-1 - cd05869
FN3 - smart00060
FN3 - cd00063
fn3 - pfam00041
Swiss-Prot Protein:
Q4KMG0
Identical to:
NP_001230526
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Ig1_Contactin
cd04967
8e-05
29
112
Ig1_Neogenin
cd05722
1.4e-11
30
115
Ig2_Robo
cd05724
2.8e-09
33
115
Ig_CEACAM_D4
cd05740
0.00036
34
116
Ig
cd00096
1e-07
46
112
Ig
cd00096
0.00022
137
204
Ig5_Contactin_like
cd04969
0.00043
140
203
Ig3_Contactin_like
cd04968
0.00066
216
308
Ig3_NCAM-1_like
cd05730
0.00073
224
309
Ig2_FGFR_like
cd05729
1.2e-10
228
308
Ig2_FGFRL1-like
cd05856
5.9e-08
228
308
Ig2_FGFR
cd05857
2.9e-07
228
308
Ig4_Neogenin
cd05723
0.00056
238
307
Ig
cd00096
5.7e-11
239
305
Ig3_L1-CAM_like
cd05731
4.8e-07
239
309
Ig2_Follistatin_like
cd05736
0.00021
239
311
Ig_Pro_neuregulin
cd05750
0.00096
239
299
Ig_1
cd05763
5.6e-05
239
309
Ig3_L1-CAM
cd05876
0.00015
239
309
Ig5_Titin_like
cd05747
1.8e-09
311
396
Ig3_Contactin-1
cd05851
1.6e-06
311
398
Ig3_Contactin_like
cd04968
1e-06
312
398
Ig_Myomesin_like_C
cd05737
5.8e-05
312
392
Ig_M-protein_C
cd05891
0.00027
312
397
Ig4_Contactin-2-like
cd05728
4.5e-07
316
397
Ig2_FGFR
cd05857
4.4e-06
316
397
Ig2_FGFR_like
cd05729
8e-07
318
397
Ig5_Contactin_like
cd04969
2.1e-05
326
397
Ig4_L1-NrCAM_like
cd04978
3.8e-06
326
392
Ig4_Robo
cd05726
0.00035
326
406
Ig3_Peroxidasin
cd05745
1.7e-09
326
397
Ig_2
cd05764
0.0007
326
397
Ig4_Neogenin
cd05723
3.3e-07
328
397
Ig
cd00096
2.7e-10
329
394
Ig3_Robo
cd05725
3.3e-06
329
397
Ig2_Follistatin_like
cd05736
0.00047
329
400
Ig4_Peroxidasin
cd05746
4.7e-08
329
396
Ig5_NCAM-1_like
cd05732
7.1e-05
403
517
Ig5_NCAM-1
cd05869
0.00058
403
517
Ig3_Contactin_like
cd04968
1.8e-05
404
518
Ig2_FGFR_like
cd05729
0.001
410
517
Ig5_Contactin_like
cd04969
0.00052
419
517
Ig
cd00096
1.2e-08
422
514
Ig3_Robo
cd05725
0.00021
422
517
FN3
cd00063
1e-13
577
673
FN3
cd00063
3e-20
721
815
FN3
cd00063
3.2e-13
827
923
ig
pfam00047
7e-05
43
99
ig
pfam00047
4.4e-06
236
292
ig
pfam00047
2.3e-08
326
382
ig
pfam00047
0.00087
419
502
fn3
pfam00041
1.9e-09
578
667
fn3
pfam00041
3.7e-17
722
807
fn3
pfam00041
4.9e-05
824
916
I-set
pfam07679
0.00021
29
117
IG
smart00409
5.8e-10
35
116
IG_like
smart00410
5.8e-10
35
116
IGc2
smart00408
6.6e-08
42
104
IG
smart00409
9.8e-05
126
213
IG_like
smart00410
9.8e-05
126
213
I-set
pfam07679
2.2e-06
220
308
C1-set
pfam07654
0.00056
228
303
IG
smart00409
1.8e-11
228
309
IG_like
smart00410
1.8e-11
228
309
IGc2
smart00408
6.1e-12
235
297
I-set
pfam07679
3.3e-14
312
397
IG
smart00409
3e-14
318
398
IG_like
smart00410
3e-14
318
398
IGc2
smart00408
1.1e-16
325
387
I-set
pfam07679
2.3e-11
405
517
IG
smart00409
7.5e-14
411
518
IG_like
smart00410
7.5e-14
411
518
IGc2
smart00408
1.3e-11
418
507
FN3
smart00060
2.1e-10
577
664
FN3
smart00060
3.8e-18
721
804
FN3
smart00060
3.2e-11
823
913
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_056041
Polymorphism
p.ALA686VAL
N/A
Swiss-Prot
VAR_056039
Polymorphism
p.GLU162LYS
N/A
Swiss-Prot
VAR_056038
Polymorphism
p.LYS66ARG
N/A
Swiss-Prot
VAR_056040
Polymorphism
p.PRO351ALA
N/A
Swiss-Prot
VAR_066498
Disease
p.PRO689ALA
Holoprosencephaly 11 (HPE11)
Swiss-Prot
VAR_066502
Disease
p.SER940ARG
Holoprosencephaly 11 (HPE11)
Swiss-Prot
VAR_066501
Disease
p.THR790ALA
Holoprosencephaly 11 (HPE11)
Swiss-Prot
VAR_066497
Disease
p.THR684SER
Holoprosencephaly 11 (HPE11)
Swiss-Prot
VAR_066500
Disease
p.VAL780GLU
Holoprosencephaly 11 (HPE11)
Swiss-Prot
VAR_066499
Disease
p.VAL691MET
Holoprosencephaly 11 (HPE11)
OMIM
608707.0001
Disease
p.PRO689ALA
HOLOPROSENCEPHALY 11
OMIM
608707.0004
Disease
p.SER940ARG
HOLOPROSENCEPHALY 11
OMIM
608707.0003
Disease
p.THR790ALA
HOLOPROSENCEPHALY 11
OMIM
608707.0002
Disease
p.VAL780GLU
HOLOPROSENCEPHALY 11
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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