Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_085059
110611235

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 ↕
LamGcd001104.9e-05247406
Endostatin-likecd002472.9e-12813401510
Collagenpfam013912.6e-09517587
Collagenpfam013915.1e-10588640
Collagenpfam013915.2e-10665726
Collagenpfam013911.6e-12727786
Collagenpfam013912e-12813872
Collagenpfam013913.1e-10878951
Collagenpfam013911.7e-109541009
Collagenpfam013911e-0910141077
Collagenpfam013911.8e-0810881139
Collagenpfam013912.3e-0811411204
DUF959pfam061211.4e-11913195
TSPNsmart002101.2e-57221409
Endostatinpfam064824.5e-21612021516

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs76658745 Polymorphismp.ARG261TRPN/A
dbSNPrs12483377 Polymorphismp.ASP1437ASNN/A
dbSNPrs2230693 Polymorphismp.GLN960HISN/A
dbSNPrs76547444 Polymorphismp.GLY517SERN/A
dbSNPrs79980197 Polymorphismp.PRO886ARGN/A
dbSNPrs62000962 Polymorphismp.VAL841ILEN/A
OMIM120328.0004 Diseasep.ASP1437ASNKNOBLOCH SYNDROME 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258