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Results for the Protein: P53701
1705694

CCHL_HUMAN RecName: Full=Cytochrome c-type heme lyase; Short=CCHL; AltName: Full=Holocytochrome c-type synthase

Known Diseases associated with this Protein:
  MICROPHTHALMIA, SYNDROMIC, 7
  MICROPHTHALMIA, SYNDROMIC, 7 (MCOPS7)
3
0
2
0
1
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Default View:

Cyto_heme_lyase - pfam01265




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Cyto_heme_lyasepfam012654.8e-1321262

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_030823Diseasep.ARG217CYSMicrophthalmia, syndromic, 7 (MCOPS7)
OMIM300056.0003 Diseasep.ARG217CYSMICROPHTHALMIA, SYNDROMIC, 7
OMIM300056.0002 Diseasep.ARG197TERMICROPHTHALMIA, SYNDROMIC, 7



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