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Results for the Protein: Q9BXJ0
20177861

C1QT5_HUMAN RecName: Full=Complement C1q tumor necrosis factor-related protein 5; Flags: Precursor

Known Diseases associated with this Protein:
  LATE-ONSET RETINAL DEGENERATION (LORD)
  RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
2
1
1
0
2
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Default View:

Collagen - pfam01391
C1Q - smart00110
C1q - pfam00386


Swiss-Prot Protein: Q9BXJ0
Identical to: NP_056460
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C1qpfam003863.4e-60105232
C1Qsmart001108.6e-4897235

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032628Polymorphismp.GLN44ARGN/A
Swiss-ProtVAR_032629Diseasep.SER163ARGLate-onset retinal degeneration (LORD)
OMIM608752.0001 Diseasep.SER163ARGRETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT



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