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Results for the Protein: Q7Z449
74762432

CP2U1_HUMAN RecName: Full=Cytochrome P450 2U1

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (SPG56)
8
0
4
0
4
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Default View:

p450 - pfam00067
CypX - COG2124


Swiss-Prot Protein: Q7Z449
Identical to: NP_898898
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
p450pfam000674e-14660541
CypXCOG21243.2e-3678543

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069578Diseasep.ARG488TRPSpastic paraplegia 56, autosomal recessive (SPG56)
Swiss-ProtVAR_069576Diseasep.ASP316VALSpastic paraplegia 56, autosomal recessive (SPG56)
Swiss-ProtVAR_069575Diseasep.CYS262ARGSpastic paraplegia 56, autosomal recessive (SPG56)
Swiss-ProtVAR_069577Diseasep.GLU380GLYSpastic paraplegia 56, autosomal recessive (SPG56)
OMIM610670.0005 Diseasep.ARG488TRPSPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
OMIM610670.0001 Diseasep.ASP316VALSPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
OMIM610670.0004 Diseasep.CYS262ARGSPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
OMIM610670.0002 Diseasep.GLU380GLYSPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE



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