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Results for the Protein:
NP_085059
110611235
80781
COL18A1
NCBI
collagen alpha-1(XVIII) chain isoform 1 precursor [Homo sapiens]
Known Diseases associated with this Protein:
KNOBLOCH SYNDROME 1
1
6
1
6
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:
DUF959 - pfam06121
TSPN - smart00210
LamG - cd00110
Collagen - pfam01391
Endostatin - pfam06482
Endostatin-like - cd00247
RefSeq Protein:
NP_085059
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Endostatin-like
cd00247
2.9e-128
1340
1510
Collagen
pfam01391
2.6e-09
517
587
Collagen
pfam01391
5.1e-10
588
640
Collagen
pfam01391
5.2e-10
665
726
Collagen
pfam01391
1.6e-12
727
786
Collagen
pfam01391
2e-12
813
872
Collagen
pfam01391
3.1e-10
878
951
Collagen
pfam01391
1.7e-10
954
1009
Collagen
pfam01391
1e-09
1014
1077
Collagen
pfam01391
1.8e-08
1088
1139
Collagen
pfam01391
2.3e-08
1141
1204
DUF959
pfam06121
1.4e-119
13
195
TSPN
smart00210
1.2e-57
221
409
Endostatin
pfam06482
4.5e-216
1202
1516
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs76658745
Polymorphism
p.ARG261TRP
N/A
dbSNP
rs12483377
Polymorphism
p.ASP1437ASN
N/A
dbSNP
rs2230693
Polymorphism
p.GLN960HIS
N/A
dbSNP
rs76547444
Polymorphism
p.GLY517SER
N/A
dbSNP
rs79980197
Polymorphism
p.PRO886ARG
N/A
dbSNP
rs62000962
Polymorphism
p.VAL841ILE
N/A
OMIM
120328.0004
Disease
p.ASP1437ASN
KNOBLOCH SYNDROME 1
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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