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Results for the Protein: Q9ULV5
296434534

HSF4_HUMAN RecName: Full=Heat shock factor protein 4; Short=HSF 4; Short=hHSF4; AltName: Full=Heat shock transcription factor 4; Short=HSTF 4

Known Diseases associated with this Protein:
  CATARACT 5, LAMELLAR
  CATARACT 5, MULTIPLE TYPES
  CATARACT 5, MULTIPLE TYPES (CTRCT5)
9
0
4
0
5
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Default View:

HSF1 - COG5169
HSF - smart00415
HSF_DNA-bind - pfam00447


Swiss-Prot Protein: Q9ULV5
Identical to: NP_001035757
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HSF_DNA-bindpfam004474e-5619124
HSFsmart004153.7e-6316120

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017558Diseasep.ALA19ASPCataract 5, multiple types (CTRCT5)
Swiss-ProtVAR_017561Diseasep.ARG119CYSCataract 5, multiple types (CTRCT5)
Swiss-ProtVAR_029018Diseasep.ARG73HISCataract 5, multiple types (CTRCT5)
Swiss-ProtVAR_017559Diseasep.ILE86VALCataract 5, multiple types (CTRCT5)
Swiss-ProtVAR_017560Diseasep.LEU114PROCataract 5, multiple types (CTRCT5)
OMIM602438.0003 Diseasep.ALA20ASPCATARACT 5, LAMELLAR
OMIM602438.0002 Diseasep.ARG120CYSCATARACT 5, MULTIPLE TYPES
OMIM602438.0004 Diseasep.ILE87VALCATARACT 5, LAMELLAR
OMIM602438.0001 Diseasep.LEU115PROCATARACT 5, LAMELLAR



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