PTS R25Q - GET-Evidence

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

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Curation:
Currentness:

PTS R25Q

(PTS Arg25Gln)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (25 hits -- see all)
  • WikiGenes - PTS - 6-pyruvoyltetrahydropterin synthase
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/5805.html
  • PTS
    R25Q. L26F. E35G. N36K. K39fs. F40fs. F40L. N47D. N52S. V56M. V57del. T67M. V70D. N72L. L76F. E81E. P87S ... Deletions = orange. Insertions = pink. PTS. www.biopku.org. by Blau ...
    www.bh4.org/biodefdocs/pts.pdf
  • Gene Mutant designation Nucleotide aberration Location in ...
    g.3059A>G; c.155A>G. Exon 2. PTS. IVS1‐3C>G. c.84‐3C>G. Intron 1. PTS. R25Q ... g.5039T>A; c.209T>A. Exon 4. PTS. N36K. g.3012C>G; c.108C>G. Exon 2. PTS. E35G ...
    www.biopku.org/pdf/biomdb_summary.pdf
  • Nuclear localization of tetrahydrobiopterin biosynthetic enzymes
    transgenic mice expressing a Pts-LacZ gene fusion containing the N-terminal 35 amino ... fusion protein in PTS-transgenic mice. We generated a transgenic mouse ...
    www.bh4.org/pdf/elzaouk_bba.pdf
  • EC 4.2.3.12 - 6-pyruvoyltetrahydropterin synthase
    Pts-/- mice rescued by a transgenic introduction of human PTS cDNA under the control of ... R25Q. Homo sapiens. 61% of activity of wild type enzyme. Phosphorylated, forms stable ...
    www.brenda-enzymes.org/php/result_flat.php4?ecno=4.2.3.12
  • Mutations in the BH4-metabolizing genes GTP cyclohydrolase I ...
    322A4T]) in PTS, that was detected only recently in a PTPS ... PTS gene, or exonic mutations that affect pre-mRNA splicing, including cryptic splice ...
    www.biopku.org/pdf/thony_blau_hm_2006.pdf
  • INSTYTUT MATKI I DZIECKA
    chorych z określonym genotypem w locus PTS pozostaje nadal niewielka, dlatego nie. ustalono zbyt wielu ... Mutacje w genie PTS. W grupie chorych z deficytem PTPS zidentyfikowano ...
    www.ibb.waw.pl/~ptgc/download/hpa.pdf
  • Type II- 95%
    Polymorphism (dbSNP:rs36059660) PTS Q03393 R25Q 23 VAR_006818 AGC (0.772) HPA, abolishes ... (0.926) MAPK (0.810) Polymorphism (dbSNP:rs1347570) PTS Q03393 R25G 32 ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt
  • UNLOCKMOVIL - NUEVA ACTUALIZACIÓN DEL MULTISERVER: TOTAL ...
    TU SITE DE TELEFONIA MOVIL ... CON ESTA NUEVA ACTUALIZACIÓN (VERSION 1.30): - SE HAN CORREGIDO LOS ERRORES DE COMUNICACIÓN: CONECTANDO CON EL SERVIDOR, LEYENDO DEL SERVIDOR...
    unlockmovil.com/modules.php?name=News&file=article&sid=96
  • Ufo Genesis - Sinais em canavial de Limeira - SP
    O maior conteúdo do gênero ... porn movies dPSX FYh , streaming porn channel DCQx rt6 , home made animal porn r25q tPD , large women porn j22 gwt , porn passwords thread ak22 ...
    netahosting.com/v2/modules.php?name=News&file=article&...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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