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Results for the Protein:
Q9NQX1
212276458
11107
PRDM5
NCBI
,
UniProt
PRDM5_HUMAN RecName: Full=PR domain zinc finger protein 5; AltName: Full=PR domain-containing protein 5
Known Diseases associated with this Protein:
BRITTLE CORNEA SYNDROME 2
BRITTLE CORNEA SYNDROME 2 (BCS2)
3
0
2
0
1
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:
SET - smart00317
SET - pfam00856
ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096
Swiss-Prot Protein:
Q9NQX1
Identical to:
NP_061169
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
zf-C2H2
pfam00096
9e-05
199
221
zf-C2H2
pfam00096
0.00016
234
256
zf-C2H2
pfam00096
0.00012
262
287
zf-C2H2
pfam00096
0.00046
295
317
zf-C2H2
pfam00096
0.00083
320
342
zf-C2H2
pfam00096
0.00017
376
398
zf-C2H2
pfam00096
9.6e-05
404
426
zf-C2H2
pfam00096
1.1e-05
432
455
zf-C2H2
pfam00096
3.2e-06
461
483
zf-C2H2
pfam00096
3.7e-05
489
511
zf-C2H2
pfam00096
3e-07
517
539
zf-C2H2
pfam00096
1.7e-05
545
567
zf-C2H2
pfam00096
9.2e-05
573
595
SET
smart00317
6.8e-06
9
123
ZnF_C2H2
smart00355
0.00043
167
190
ZnF_C2H2
smart00355
0.00021
262
287
ZnF_C2H2
smart00355
2.9e-05
295
317
ZnF_C2H2
smart00355
0.0001
320
342
ZnF_C2H2
smart00355
6.5e-05
376
398
ZnF_C2H2
smart00355
0.00011
404
426
ZnF_C2H2
smart00355
3.9e-05
432
455
ZnF_C2H2
smart00355
1.4e-05
461
483
ZnF_C2H2
smart00355
0.00021
489
511
ZnF_C2H2
smart00355
8.9e-06
517
539
ZnF_C2H2
smart00355
1.4e-05
545
567
ZnF_C2H2
smart00355
0.00099
573
595
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_066393
Disease
p.TYR107CYS
Brittle cornea syndrome 2 (BCS2)
OMIM
614161.0002
Disease
p.ARG590TER
BRITTLE CORNEA SYNDROME 2
OMIM
614161.0004
Disease
p.TYR107CYS
BRITTLE CORNEA 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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