PPOX R304H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(PPOX Arg304His)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr1:161139738: 4.5% (483/10758) in EVS
  • A @ chr1:159406361: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (483/10758)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr1:161139738


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr1:161139738


huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:161139738


GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:159406362


Other external references

  • rs36013429
  • Score: 0.001 (benign)
    Web search results (12 hits -- see all)
  • Mutations in the protoporphyrinogen oxidase gene in patients ...
    No other abnormality was found in the PPOX coding sequence from the four VP patients. ... the PPOX gene, leading to arginine to histidine substitution at codon 304 (R304H) and ...
  • Mutation Screening of the Entire Coding Region of the ...
    ... activity of protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the ... with mutations in the gene encoding PPOX and is usually inherited as an ...
  • Variegate Porphyria in Western Europe: Identification of PPOX ...
    Variegate Porphyria in Western Europe: Identification of PPOX Gene ... PPOX gene from a common ancestor, but few families. from elsewhere have been studied. Here ...
  • 1115
    PPOX by substitution of the nucleotide positioned in. IVS7–9 has been reported, which ... Variegate porphyria in Western Europe: identification of PPOX gene muta ...
  • Type III 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ...
  • Type III 98%
    ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ... Polymorphism (dbSNP:rs8176696) PPOX P50336 R304H 307 VAR_003690 AGC ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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