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Results for the Protein:
NP_899068
34304379
27130
INVS
NCBI
inversin isoform b [Homo sapiens]
Known Diseases associated with this Protein:
NEPHRONOPHTHISIS 2
4
0
4
0
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:
ANK - cd00204
Arp - COG0666
Ank - pfam00023
ANK - smart00248
IQ - pfam00612
RefSeq Protein:
NP_899068
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Arp
COG0666
7.6e-18
10
296
ANK
cd00204
1.1e-35
143
275
ANK
cd00204
2.2e-35
283
410
Arp
COG0666
7e-28
319
584
ANK
cd00204
5.3e-38
417
544
Ank
pfam00023
2.6e-07
47
79
Ank
pfam00023
7.5e-05
80
112
Ank
pfam00023
6e-05
148
180
Ank
pfam00023
0.00082
254
286
Ank
pfam00023
1.3e-07
356
388
Ank
pfam00023
3.6e-05
389
421
Ank
pfam00023
7.8e-08
422
454
Ank
pfam00023
7.7e-07
455
487
Ank
pfam00023
0.00014
488
520
IQ
pfam00612
0.00042
747
767
ANK
smart00248
1.8e-06
47
76
ANK
smart00248
1.5e-05
148
177
ANK
smart00248
0.00031
220
250
ANK
smart00248
0.00038
288
317
ANK
smart00248
1.1e-05
356
385
ANK
smart00248
0.00043
389
418
ANK
smart00248
3.3e-06
422
451
ANK
smart00248
2.1e-05
455
484
ANK
smart00248
1.1e-05
488
517
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
OMIM
243305.0001
Disease
p.ARG603TER
NEPHRONOPHTHISIS 2
OMIM
243305.0004
Disease
p.ARG729TER
NEPHRONOPHTHISIS 2
OMIM
243305.0003
Disease
p.ARG737TER
NEPHRONOPHTHISIS 2
OMIM
243305.0002
Disease
p.LEU493SER
NEPHRONOPHTHISIS 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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