PAH L98S - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

PAH L98S

(PAH Leu98Ser)


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: 0.401 (possibly damaging)
    Web search results (19 hits -- see all)
  • A European Multicenter Study of Phenylalanine Hydroxylase ...
    complete deficiency of PAH activity is designated "classic ... gene encoding PAH and that the. different forms of PAH deficiency are allelic (Ledley et ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Erratum
    assigned values (AVs) for individual PAH mutations. were omitted from the column headings ... Assignment of PAH Mutations to Metabolic Phenotypes and AVs, Based on ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Stamboom Stamboom
    L98S. L98S. A104D. A104D. S110L. S110L. R111X. R111X. W120X. W120X. P122Q. P122Q ... Er is een gen (PAH) dat. PKU veroorzaakt. PKU veroorzaakt. PAH. PAH. PKU. PKU. De Ziekte. De ...
    cs.uu.nl/docs/vakken/zl/.../dag2/Genidentificatie.pdf
  • 서울시 PM-10 오염원의 정량적 기여도 추정
    마찬가지 로 PAH의 경우 l993년 l월부터10월까지 무작위로 측 정되었으며, 낮과 밤 시간대에 각각 10개와 11개의 시 료를 얻었다. ... 원소에 관한 오염원 목록자료는 Hopke(l98s) 의 오염원 자료를 참고하였으며, PAH의 오염원 목록자료 는 Westerholm과 Li ...
    envinews.co.kr/Control.do?cmd=boardView&id=z_env&no=589&...
  • GÉNÉTIQUE BIOCHIMIQUE GÉNÉTIQUE BIOCHIMIQUE
    L98S. F55fsdelT. S295X. E6nt-96A g I164T. E178G. R158W. Proposed. Proposed. Model for. Model for. Phenotypic. Phenotypic. Effect. Effect. of. of. Two. Two. Mutant PAH. Mutant PAH ...
    chu-sainte-justine.org/documents/Pro/...
  • De Minimis Discharges Study Report to Congress
    ACKNOWLEDGMENTS EPA acknowledges personnel from the following offices who served ... Office of Wetlands, Oceans and Watersheds EPA especially appreciates ...
    nepis.epa.gov/Exe/ZyPURL.cgi?Dockey=00001KOA.txt
  • 231.dat
    ... php?topic=2311.0 Free Lingerie Sex paH 9tMz <br>free porn video website ... free black gay porn movies MgOj L98S http://grannysworld.com/smf/index.php?topic ...
    www.din.or.jp/~school/cgi-bin/joyful/past/231.dat
  • <!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
    ... 00000 n 0000028373 00000 n 0000029574 00000 n 0000030013 00000 n 0000030237 ... 00000 n 0000056362 00000 n 0000082833 00000 n 0000083276 00000 n 0000084267 ...
    www.fulp.ulpgc.es/documentacion/almacen/archivos/file001848
  • สวัสดีปีใหม่ค่ะ - บริหารทรัพยากรมนุษย์ | Google Groups
    ความช่วยเหลือ | เข้าสู่ระบบ. บริหารทรัพยากรมนุษย์. ข้อความจากการสนทนา ... ดูการแจกแจง - แสดงเฉพาะเนื้อหาข้อความ. Received: by 10.114.77.1 with SMTP id ...
    groups.google.co.th/group/siamhrm/msg/...?dmode=source
  • Club Juvenil Petra - C.J. PETRA 3-0 WWW.INTURCO.COM
    ToniGomis va escriure "Aquest dissabte 23 el equip senior femení ha jugat contra ... L'esforç de l'equip s'ha anat vegent a mesura que ha anat passant la ...
    clubjuvenilpetra.com/modules.php?name=News&file=article&...

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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