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Results for the Protein:
NP_001166896
290746380
25861
DFNB31
NCBI
whirlin isoform 3 [Homo sapiens]
0
8
0
8
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:
harmonin_N_like - cd07347
HN_L-whirlin_R1_like - cd07356
HN_L-delphilin-R2_li - cd07355
PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ_CTP_protease - cd00988
PDZ - cd00136
HN_L-whirlin_R2_like - cd07357
harmonin_N_like_1 - cd07358
RefSeq Protein:
NP_001166896
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
HN_L-delphilin-R2_li
cd07355
0.0006
35
114
HN_L-whirlin_R1_like
cd07356
1.1e-55
35
112
PDZ_signaling
cd00992
4.6e-28
138
219
PDZ_CTP_protease
cd00988
0.00078
149
227
PDZ
cd00136
1.2e-15
150
219
PDZ_signaling
cd00992
3.9e-28
277
357
PDZ
cd00136
5.3e-15
288
357
harmonin_N_like
cd07347
4.2e-30
419
497
HN_L-whirlin_R2_like
cd07357
6.5e-57
419
499
harmonin_N_like_1
cd07358
1.6e-05
419
497
PDZ_signaling
cd00992
5e-18
813
900
PDZ
pfam00595
7.1e-21
140
219
PDZ
pfam00595
2.3e-15
279
357
PDZ
smart00228
1.3e-24
137
222
PDZ
smart00228
3.6e-21
276
360
PDZ
smart00228
5.2e-10
812
903
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs4978584
Polymorphism
p.ALA440THR
N/A
dbSNP
rs10817610
Polymorphism
p.ARG364HIS
N/A
dbSNP
rs35003670
Polymorphism
p.ARG423PRO
N/A
dbSNP
rs2274158
Polymorphism
p.ASN795LYS
N/A
dbSNP
rs6478078
Polymorphism
p.HIS751GLN
N/A
dbSNP
rs942519
Polymorphism
p.MET613THR
N/A
dbSNP
rs12339210
Polymorphism
p.PRO562ALA
N/A
dbSNP
rs2274159
Polymorphism
p.VAL782ALA
N/A
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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