Home
News
About DMDM
Database Statistics
Research
Publications
Contact
Results for the Protein:
NP_569712
110611233
80781
COL18A1
NCBI
collagen alpha-1(XVIII) chain isoform 2 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:
TSPN - smart00210
LamG - cd00110
Collagen - pfam01391
Endostatin - pfam06482
Endostatin-like - cd00247
RefSeq Protein:
NP_569712
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Endostatin-like
cd00247
2.9e-128
1160
1330
Collagen
pfam01391
2.6e-09
337
407
Collagen
pfam01391
5.1e-10
408
460
Collagen
pfam01391
5.2e-10
485
546
Collagen
pfam01391
1.6e-12
547
606
Collagen
pfam01391
2e-12
633
692
Collagen
pfam01391
3.1e-10
698
771
Collagen
pfam01391
1.7e-10
774
829
Collagen
pfam01391
1e-09
834
897
Collagen
pfam01391
1.8e-08
908
959
Collagen
pfam01391
2.3e-08
961
1024
TSPN
smart00210
1.2e-57
41
229
Endostatin
pfam06482
4.5e-216
1022
1336
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs76658745
Polymorphism
p.ARG81TRP
N/A
dbSNP
rs12483377
Polymorphism
p.ASP1257ASN
N/A
dbSNP
rs2230693
Polymorphism
p.GLN780HIS
N/A
dbSNP
rs76547444
Polymorphism
p.GLY337SER
N/A
dbSNP
rs79980197
Polymorphism
p.PRO706ARG
N/A
dbSNP
rs62000962
Polymorphism
p.VAL661ILE
N/A
OMIM
120328.0004
Disease
p.ASP1257ASN
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
| 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258