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Results for the Protein: Q9H444
24636296

CHM4B_HUMAN RecName: Full=Charged multivesicular body protein 4b; AltName: Full=Chromatin-modifying protein 4b; Short=CHMP4b; AltName: Full=SNF7 homolog associated with Alix 1; AltName: Full=SNF7-2; Short=hSnf7-2; AltName: Full=Vacuolar protein sorting-associated protein 32-2; Short=Vps32-2; Short=hVps32-2

Known Diseases associated with this Protein:
  CATARACT 31, MULTIPLE TYPES
  CATARACT 31, MULTIPLE TYPES (CTRCT31)
  CATARACT 31, POSTERIOR POLAR
4
0
2
0
2
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Swiss-Prot Protein: Q9H444
Identical to: NP_789782
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037579Diseasep.ASP129VALCataract 31, multiple types (CTRCT31)
Swiss-ProtVAR_037580Diseasep.GLU161LYSCataract 31, multiple types (CTRCT31)
OMIM610897.0001 Diseasep.ASP129VALCATARACT 31, MULTIPLE TYPES
OMIM610897.0002 Diseasep.GLU161LYSCATARACT 31, POSTERIOR POLAR



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