FAH P261L - GET-Evidence

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

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(FAH Pro261Leu)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



Other external references

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...
  • EC - fumarylacetoacetase
    P261L. Mus musculus. mutant may cause general structural effects or misfolding by ... Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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