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Results for the Protein: NP_569712
110611233

collagen alpha-1(XVIII) chain isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  KNOBLOCH SYNDROME 1
1
6
1
6
0
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 The Domains on the Default View are decided by the Domain's E-Value.

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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 ↕
LamGcd001104.9e-0567226
Endostatin-likecd002472.9e-12811601330
Collagenpfam013912.6e-09337407
Collagenpfam013915.1e-10408460
Collagenpfam013915.2e-10485546
Collagenpfam013911.6e-12547606
Collagenpfam013912e-12633692
Collagenpfam013913.1e-10698771
Collagenpfam013911.7e-10774829
Collagenpfam013911e-09834897
Collagenpfam013911.8e-08908959
Collagenpfam013912.3e-089611024
TSPNsmart002101.2e-5741229
Endostatinpfam064824.5e-21610221336

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs76658745 Polymorphismp.ARG81TRPN/A
dbSNPrs12483377 Polymorphismp.ASP1257ASNN/A
dbSNPrs2230693 Polymorphismp.GLN780HISN/A
dbSNPrs76547444 Polymorphismp.GLY337SERN/A
dbSNPrs79980197 Polymorphismp.PRO706ARGN/A
dbSNPrs62000962 Polymorphismp.VAL661ILEN/A
OMIM120328.0004 Diseasep.ASP1257ASNKNOBLOCH SYNDROME 1



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