FAH P261L - GET-Evidence

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

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Curation:
Currentness:

FAH P261L

(FAH Pro261Leu)


You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • T @ chr15:80465431: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (16 hits -- see all)
  • Tyrosinemia Type 1 -- GeneReviews -- NCBI Bookshelf
    The four common FAH mutations – c.1062+5G>A (IVS12+5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G), and p.Pro261Leu (P261L) – account ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • Wolfson
    58100 Holon Israel Telephone: (+972)-3-5028692 Fax: (+972)-3-5028693 58100 Holon Israel ... FAH; [P261L] , sequencing. Y chromosome detection. Y chromosome infertility. Zellweger ...
    goldenhelix.org/israeli/...+Genetics+Laboratory.html
  • Tyrosinemia Type 1
    targeted mutation analysis for the four common FAH mutations and sequence analysis are ... The P261L mutation accounts for nearly 100% of mutations responsible for ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • Hadassah Hebrew University Medical Center, Department of Human ...
    CFTR; [W1282X], [deltaF508], [G542X];[N1303K], [3849+10kbC>T], [17171G>A], [405 ... FAH; [P261L] Uni-Parental Disomy UPD. Chromosome 2;7;14;16;20. Usher ...
    goldenhelix.org/israeli/...+Human+Genetics,+Molecular.html
  • Crystal structure and mechanism of a carbon–carbon bond hydrolase
    Results: The FAH crystal structure has been determined by rapid, automated ... G158D, P261L, P342L and S405H occur between the N- and C-terminal domains and may disrupt ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Spectrum of mutations in the fumarylacetoacetate hydrolase ...
    Please wait a few minutes and refresh the page. If the problem persists, you may wish to ... relationship, we have analyzed the FAH genotype of 25 HT1 patients. ...
    www3.interscience.wiley.com/journal/67501918/abstract
  • משרד הבריאות - מחלקה לגנטיקה קהילתית - Mendelian Disorders ...
    Three mutations were reported, each in homozygosity {P261L], [IVS12+5G>A] ... Mutations analysis of the FAH gene in Israeli patients with tyrosinemia ...
    health.gov.il/pages/default.asp?pageid=1427&...&maincat=42
  • EC 3.7.1.2 - fumarylacetoacetase
    P261L. Mus musculus. mutant may cause general structural effects or misfolding by ... Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.7.1.2
  • 희귀난치성질환헬프라인
    ㆍ푸마릴아세토아세타제 하이드로라아제(Fumarylacetoacetase Hydrolase: FAH)의 부족으로 생기며 티로신혈증 중 증상이 가장 ... FAH 돌연변이: IVS12+5 G>A, IVS6-1 G>T, IVS7-6 T>G, P261L. 일반 미국 인구에서 60 ...
    helpline.cdc.go.kr/web/rare/rare_view.asp?cate_code=4&...
  • Type III 95%
    ... family recognizing original seq Added kinase gruop(s) Added kinase family(s) Removed ... (0.580) Polymorphism (dbSNP:rs35014224) FAH P16930 P261L 260 VAR_005216 CMGC (0.929) STE ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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