PNPO R116Q - GET-Evidence

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Curation:
Currentness:

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PNPO R116Q

(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)

Publications
 

Genomes
 

Added in this revision:

snp-32

 

Other external references
 

    PolyPhen-2
  • 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 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 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 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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