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Results for the Protein:
NP_001258549
410110906
23090
ZNF423
NCBI
zinc finger protein 423 isoform 2 [Homo sapiens]
Known Diseases associated with this Protein:
JOUBERT SYNDROME 19
NEPHRONOPHTHISIS 14
2
0
2
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:
ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096
RefSeq Protein:
NP_001258549
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
zf-C2H2
pfam00096
4.1e-05
134
156
zf-C2H2
pfam00096
1.5e-05
162
184
zf-C2H2
pfam00096
0.00042
203
226
zf-C2H2
pfam00096
0.00056
420
443
zf-C2H2
pfam00096
0.00011
632
655
zf-C2H2
pfam00096
0.00026
899
921
ZnF_C2H2
smart00355
3.8e-05
78
100
ZnF_C2H2
smart00355
0.00076
134
156
ZnF_C2H2
smart00355
1.2e-05
162
184
ZnF_C2H2
smart00355
0.00096
203
226
ZnF_C2H2
smart00355
2e-05
420
443
ZnF_C2H2
smart00355
0.00047
457
480
ZnF_C2H2
smart00355
0.00016
572
594
ZnF_C2H2
smart00355
1.8e-05
632
655
ZnF_C2H2
smart00355
0.00045
660
683
ZnF_C2H2
smart00355
0.00015
690
713
ZnF_C2H2
smart00355
0.00067
721
743
ZnF_C2H2
smart00355
1.7e-05
870
892
ZnF_C2H2
smart00355
4.7e-05
899
921
ZnF_C2H2
smart00355
6.9e-05
1060
1083
ZnF_C2H2
smart00355
0.00055
1108
1130
ZnF_C2H2
smart00355
0.00036
1169
1192
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
OMIM
604557.0003
Disease
p.HIS1217TYR
JOUBERT SYNDROME 19
OMIM
604557.0001
Disease
p.PRO853LEU
NEPHRONOPHTHISIS 14
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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