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Results for the Protein: O00189
145559442

AP4M1_HUMAN RecName: Full=AP-4 complex subunit mu-1; AltName: Full=AP-4 adapter complex mu subunit; AltName: Full=Adapter-related protein complex 4 subunit mu-1; AltName: Full=Mu subunit of AP-4; AltName: Full=Mu-adaptin-related protein 2; Short=mu-ARP2; AltName: Full=Mu4-adaptin; Short=mu4

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
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1
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Swiss-Prot Protein: O00189
Identical to: NP_004713
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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 ↕
dbSNPrs41280968 Polymorphismp.ARG271HISN/A
OMIM602296.0002 Diseasep.GLU193LYSSPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE



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