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Results for the Protein: P22830
85701348

HEMH_HUMAN RecName: Full=Ferrochelatase, mitochondrial; AltName: Full=Heme synthase; AltName: Full=Protoheme ferro-lyase; Flags: Precursor

Known Diseases associated with this Protein:
  ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
  PROTOPORPHYRIA, ERYTHROPOIETIC
28
1
5
2
22
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Default View:

HemH - COG0276
Ferrochelatase - pfam00762
Ferrochelatase_N - cd03411
Chelatase_Class_II - cd03409
Ferrochelatase_C - cd00419


Swiss-Prot Protein: P22830
Identical to: NP_000131
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ferrochelatase_Ncd034111.2e-6869230
Chelatase_Class_IIcd034096.9e-7670224
Ferrochelatase_Ccd004194.4e-68235372
Chelatase_Class_IIcd034095.1e-39257368
Ferrochelatasepfam007622.4e-14368389

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1041951 Polymorphismp.ARG96GLNN/A
Swiss-ProtVAR_030568Diseasep.CYS406SERErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030561Diseasep.CYS236TYRErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030569Diseasep.CYS406TYRErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030555Diseasep.GLN139LEUErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030557Diseasep.GLU178LYSErythropoietic protoporphyria (EPP)
dbSNPrs3848519 Diseasep.GLY55CYSErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_002386Diseasep.HIS386PROErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030554Diseasep.ILE71LYSErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_002384Diseasep.ILE186THRErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030558Diseasep.LEU182ARGErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030567Diseasep.LYS379ASNErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_002385Diseasep.MET267ILEErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030564Diseasep.MET288LYSErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030562Diseasep.PHE260LEUErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_002387Diseasep.PHE417SERErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030553Diseasep.PRO62ARGErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030565Diseasep.PRO334LEUErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030560Diseasep.PRO192THRErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_054629Diseasep.SER264LEUErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030556Diseasep.SER151PROErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030563Diseasep.THR283ILEErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030559Diseasep.TYR191HISErythropoietic protoporphyria (EPP)
Swiss-ProtVAR_030566Diseasep.VAL362GLYErythropoietic protoporphyria (EPP)
OMIM612386.0016 Diseasep.ALA179THRPROTOPORPHYRIA, ERYTHROPOIETIC
OMIM612386.0001 Diseasep.GLY55CYSPROTOPORPHYRIA, ERYTHROPOIETIC
OMIM612386.0002 Diseasep.MET261ILEPROTOPORPHYRIA, ERYTHROPOIETIC
OMIM612386.0004 Diseasep.PHE411SERPROTOPORPHYRIA, ERYTHROPOIETIC
OMIM612386.0007 Diseasep.VAL357GLYPROTOPORPHYRIA, ERYTHROPOIETIC



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