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Results for the Protein: P25067
45644957

CO8A2_HUMAN RecName: Full=Collagen alpha-2(VIII) chain; AltName: Full=Endothelial collagen; Flags: Precursor

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (FECD1)
  CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED
  CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 (PPCD2)
6
6
2
2
8
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Default View:

Collagen - pfam01391
C1Q - smart00110
C1q - pfam00386


Swiss-Prot Protein: P25067
Identical to: NP_005193
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Collagenpfam013911.1e-1077140
Collagenpfam013911.2e-11141199
Collagenpfam013911.1e-09200254
Collagenpfam013914.5e-11255310
Collagenpfam013911.5e-11311369
Collagenpfam013916.1e-12370429
Collagenpfam013913.3e-12433492
Collagenpfam013911.9e-09495555
C1qpfam003865.2e-64576700
C1Qsmart001102.9e-79568703

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs75864656 Polymorphismp.ARG155GLNN/A
Swiss-ProtVAR_017894Diseasep.ARG155GLNCorneal dystrophy, Fuchs endothelial, 1 (FECD1)
Swiss-ProtVAR_017895Diseasep.ARG304GLNCorneal dystrophy, Fuchs endothelial, 1 (FECD1)
Swiss-ProtVAR_017897Diseasep.ARG434HISCorneal dystrophy, Fuchs endothelial, 1 (FECD1)
Swiss-ProtVAR_017898Diseasep.GLN455LYSCorneal dystrophy, posterior polymorphous, 2 (PPCD2)
Swiss-ProtVAR_017893Polymorphismp.GLY3ARGN/A
Swiss-ProtVAR_017896Polymorphismp.GLY357ARGN/A
Swiss-ProtVAR_017899Polymorphismp.PRO575LEUN/A
Swiss-ProtVAR_017900Polymorphismp.THR645ILEN/A
dbSNPrs117860804 Polymorphismp.THR502METN/A
OMIM120252.0001 Diseasep.GLN455LYSCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1||CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED
OMIM120252.0003 Diseasep.LEU450TRPCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1||CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED



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