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Results for the Protein: Q13515
17366451

BFSP2_HUMAN RecName: Full=Phakinin; AltName: Full=49 kDa cytoskeletal protein; AltName: Full=Beaded filament structural protein 2; AltName: Full=Lens fiber cell beaded filament protein CP 47; Short=CP47; AltName: Full=Lens fiber cell beaded filament protein CP 49; Short=CP49; AltName: Full=Lens intermediate filament-like light; Short=LIFL-L

Known Diseases associated with this Protein:
  CATARACT 12, MULTIPLE TYPES
  CATARACT 12, MULTIPLE TYPES (CTRCT12)
2
0
1
0
1
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Filament - pfam00038


Swiss-Prot Protein: Q13515
Identical to: NP_003562
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012164Diseasep.ARG287TRPCataract 12, multiple types (CTRCT12)
OMIM603212.0001 Diseasep.ARG287TRPCATARACT 12, MULTIPLE TYPES



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