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Results for the Protein: P49747
209572601

COMP_HUMAN RecName: Full=Cartilage oligomeric matrix protein; Short=COMP; AltName: Full=Thrombospondin-5; Short=TSP5; Flags: Precursor

Known Diseases associated with this Protein:
  EPIPHYSEAL DYSPLASIA, MULTIPLE, 1
  EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD
  EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
  MULTIPLE EPIPHYSEAL DYSPLASIA 1 (EDM1)
  PSEUDOACHONDROAPLASIA
  PSEUDOACHONDROPLASIA
  PSEUDOACHONDROPLASIA (PSACH)
  PSEUDOACHONDROPLASIA, SEVERE
68
8
10
2
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Default View:

COMP - pfam11598
EGF - smart00181
EGF_CA - smart00179
EGF_CA - pfam07645
TSP_C - pfam05735


Swiss-Prot Protein: P49747
Identical to: NP_000086
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGFsmart001810.0002490126
EGF_CApfam076450.00099127165
EGF_CAsmart001799.9e-16127179
EGFsmart001810.00034130164
EGF_CApfam076455.7e-11180221
EGF_CAsmart001797.1e-13180222
EGFsmart001812.9e-07183222
EGFsmart001810.00039228267
TSP_Cpfam057352.9e-163546746

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066793Diseasep.ALA311ASPMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_016257Polymorphismp.ALA109GLYN/A
Swiss-ProtVAR_046796Polymorphismp.ARG381CYSN/A
Swiss-ProtVAR_016258Polymorphismp.ARG224GLYN/A
Swiss-ProtVAR_016261Polymorphismp.ARG285PRON/A
Swiss-ProtVAR_066826Diseasep.ARG718PROMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066827Diseasep.ARG718TRPMultiple epiphyseal dysplasia 1 (EDM1)
dbSNPrs61739916 Polymorphismp.ASN386ASPN/A
Swiss-ProtVAR_066812Diseasep.ASN415LYSMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007640Diseasep.ASN523LYSMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007630Diseasep.ASN453SERMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_026240Diseasep.ASP420ALAMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007614Diseasep.ASP290ASNPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066801Diseasep.ASP374ASNMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066802Diseasep.ASP376ASNMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066804Diseasep.ASP385ASNMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066815Diseasep.ASP446ASNPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066820Diseasep.ASP475ASNPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007639Diseasep.ASP518ASNPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066791Diseasep.ASP290GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066794Diseasep.ASP317GLYMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066795Diseasep.ASP326GLYMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007635Diseasep.ASP473GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007637Diseasep.ASP482GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066822Diseasep.ASP507GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066823Diseasep.ASP511GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066824Diseasep.ASP515GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066808Diseasep.ASP397HISMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066819Diseasep.ASP473HISPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066796Diseasep.ASP326TYRPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007617Diseasep.ASP342TYRMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007620Diseasep.ASP361TYRMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066805Diseasep.ASP385TYRMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007627Diseasep.ASP408TYRMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007634Diseasep.ASP472TYRPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007618Diseasep.ASP349VALPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007619Diseasep.ASP361VALMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066803Diseasep.ASP378VALPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007616Diseasep.CYS328ARGPseudoachondroplasia (PSACH)
Swiss-ProtVAR_017102Diseasep.CYS348ARGPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066807Diseasep.CYS387ARGPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007625Diseasep.CYS387GLYPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066798Diseasep.CYS348PHEMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007622Diseasep.CYS371SERMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066816Diseasep.CYS448SERPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066800Diseasep.CYS371TYRMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066811Diseasep.CYS410TYRMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007632Diseasep.CYS468TYRPseudoachondroplasia (PSACH)
dbSNPrs61752496 Polymorphismp.GLN756ARGN/A
Swiss-ProtVAR_016254Polymorphismp.GLU50ASPN/A
Swiss-ProtVAR_007615Diseasep.GLY299ARGPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066810Diseasep.GLY404ARGMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007629Diseasep.GLY440ARGPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066821Diseasep.GLY501ASPMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_017103Diseasep.GLY719ASPPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066789Diseasep.GLY167GLUMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066813Diseasep.GLY427GLUMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007628Diseasep.GLY440GLUPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066828Diseasep.GLY719SERPseudoachondroplasia (PSACH)
Swiss-ProtVAR_016255Polymorphismp.LEU51TRPN/A
Swiss-ProtVAR_026239Diseasep.PRO276ARGMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_066790Diseasep.PRO234SERPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066792Diseasep.SER298LEUMultiple epiphyseal dysplasia 1 (EDM1)
Swiss-ProtVAR_007642Diseasep.THR585ARGPseudoachondroplasia (PSACH)
Swiss-ProtVAR_066825Diseasep.THR529ILEPseudoachondroplasia (PSACH)
Swiss-ProtVAR_007641Diseasep.THR585METPseudoachondroplasia (PSACH)
OMIM600310.0017 Diseasep.ARG718TRPEPIPHYSEAL DYSPLASIA, MULTIPLE, 1
OMIM600310.0008 Diseasep.ASN523LYSEPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD
OMIM600310.0009 Diseasep.ASN453SEREPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
OMIM600310.0010 Diseasep.ASP473GLYPSEUDOACHONDROAPLASIA
OMIM600310.0005 Diseasep.ASP342TYREPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
OMIM600310.0001 Diseasep.ASP472TYRPSEUDOACHONDROPLASIA
OMIM600310.0006 Diseasep.CYS328ARGPSEUDOACHONDROPLASIA
OMIM600310.0014 Diseasep.CYS348ARGPSEUDOACHONDROPLASIA
OMIM600310.0002 Diseasep.CYS468TYRPSEUDOACHONDROPLASIA
OMIM600310.0013 Diseasep.GLY719ASPPSEUDOACHONDROPLASIA, SEVERE



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