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Results for the Protein: Q6NT55
74748981

CP4FN_HUMAN RecName: Full=Cytochrome P450 4F22

Known Diseases associated with this Protein:
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (ARCI5)
9
2
4
2
5
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Default View:

p450 - pfam00067
CypX - COG2124


Swiss-Prot Protein: Q6NT55
Identical to: NP_775754
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CypXCOG21249.7e-5260526
p450pfam000671.7e-14260524

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037442Diseasep.ARG243HISIchthyosis, congenital, autosomal recessive 5 (ARCI5)
Swiss-ProtVAR_037443Diseasep.ARG372TRPIchthyosis, congenital, autosomal recessive 5 (ARCI5)
Swiss-ProtVAR_037445Diseasep.HIS436ASPIchthyosis, congenital, autosomal recessive 5 (ARCI5)
Swiss-ProtVAR_037444Diseasep.HIS435TYRIchthyosis, congenital, autosomal recessive 5 (ARCI5)
dbSNPrs7256787 Polymorphismp.LYS505GLNN/A
Swiss-ProtVAR_037441Diseasep.PHE59LEUIchthyosis, congenital, autosomal recessive 5 (ARCI5)
dbSNPrs16980531 Polymorphismp.SER178CYSN/A
OMIM611495.0003 Diseasep.ARG243HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
OMIM611495.0002 Diseasep.HIS436ASPICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
OMIM611495.0001 Diseasep.HIS435TYRICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
OMIM611495.0005 Diseasep.TRP521TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5



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