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Results for the Protein: P16112
129886
176

PGCA_HUMAN RecName: Full=Aggrecan core protein; AltName: Full=Cartilage-specific proteoglycan core protein; Short=CSPCP; AltName: Full=Chondroitin sulfate proteoglycan core protein 1; Short=Chondroitin sulfate proteoglycan 1; Contains: RecName: Full=Aggrecan core protein 2; Flags: Precursor

Known Diseases associated with this Protein:
  OSTEOCHONDRITIS DISSECANS SHORT STATURE AND EARLY-ONSET OSTEOARTHRITIS (OD)
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE (SEMD-ACAN)
2
4
0
0
6
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Default View:

IG_like - smart00410
IG - smart00409
V-set - pfam07686
IGv - smart00406
LINK - smart00445
Fibrinogen_BP - pfam08017
EGF - smart00181
CLECT - smart00034
CCP - smart00032


Swiss-Prot Protein: P16112
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IGsmart004093.3e-1536149
IG_likesmart004103.3e-1536149
V-setpfam076862e-0638148
IGvsmart004067e-0546135
LINKsmart004451.1e-59151248
LINKsmart004451e-62252350
LINKsmart004452e-49476573
LINKsmart004452.3e-58577674
Fibrinogen_BPpfam080170.000129531412
EGFsmart001811.4e-0521672199
CLECTsmart000346.8e-4122052326
CCPsmart000327.6e-1323322388

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_056153Polymorphismp.ARG275GLNN/A
Swiss-ProtVAR_063053Diseasep.ASP2266ASNSpondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN)
Swiss-ProtVAR_056152Polymorphismp.ASP102GLUN/A
Swiss-ProtVAR_056154Polymorphismp.PRO1943LEUN/A
Swiss-ProtVAR_056155Polymorphismp.SER2005ARGN/A
Swiss-ProtVAR_063765Diseasep.VAL2303METOsteochondritis dissecans short stature and early-onset osteoarthritis (OD)



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