PNPO R116Q - GET-Evidence

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

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(PNPO Arg116Gln)

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Allele frequency

  • A @ chr17:46022065: 5.3% (566/10758) in EVS
  • A @ chr17:43377063: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (566/10758)



Added in this revision:



Other external references

  • Score: 0.953 (probably damaging)
    Web search results (2 hits -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17679445*PNPO NM_018129 NP_060599*R116Q*pyridoxine-5'-phosphate oxidase ...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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