PEX26 L153V - GET-Evidence

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

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Curation:
Currentness:

PEX26 L153V

(PEX26 Leu153Val)


Short summary

This variant was found in cis with R288fs366X in a female with Infantile Refsum Disorder. Functional assays showed this combination to have a mild phenotype.

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr22:18566288: 1.3% (143/10758) in EVS
  • G @ chr22:16946287: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (143/10758)

Publications
 

Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. Am J Hum Genet. 2005 Jun;76(6):987-1007. Epub 2005 Apr 27. PubMed PMID: 15858711; PubMed Central PMCID: PMC1196456.

This variant is found as a heterozygote in cis with R288fs366X and (in trans?) with P117L in a female with Infantile Refsum Disorder.

Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. J Biol Chem. 2006 Jan 20;281(3):1317-23. Epub 2005 Oct 27. PubMed PMID: 16257970.

Functional assays of the R288fs366X/P153L construct show a mild phenotype.

Genomes
 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr22:18566288

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr22:16946288

 

Other external references
 

    dbSNP
  • rs12484657
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.988 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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