ZFYVE27 G191V - GET-Evidence

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

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Curation:
Currentness:

ZFYVE27 G191V

(ZFYVE27 Gly191Val)


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

  • T @ chr10:99509251: 3.0% (326/10758) in EVS
  • T @ chr10:99499240: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (326/10758)

Publications
 

Genomes
 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr10:99509251

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr10:99499241

 

Other external references
 

    dbSNP
  • rs35077384
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.688 (possibly damaging)
    Web search results (13 hits -- see all)
  • LETTERS TO THE EDITOR The Role of ZFYVE27/Protrudin in ...
    identification of ZFYVE27 (also known as protrudin) as. a spastin interactor in a two-hybrid screening and the find- ing of a missense mutation (p.G191V) in the protein in ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Response to Martignoni et al.
    We identified ZFYVE27 as spastin-interacting protein in. a yeast two-hybrid screen, then ... quence variant c.572G > T (p.G191V) in ZFYVE27, which. we identified in the German HSP ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated ...
    ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia ... The identified mutation G191V of ZFYVE27 isoform-a (position G105V of ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1559503
  • FSP Syndromes
    Genetics: Missense mutation; G191V (G105V of isoform-c) ZFYVE27 protein. Interacts with ... ZFYVE27: SPG33. FGD4: CMT 4H. Onset. Age: 5 to 23 years. Gait disorder ...
    neuromuscular.wustl.edu/spinal/fsp.html
  • OMIM: 610243
    They described 4 splice variants of ZFYVE27. ... at position 572 in exon 6 of the ZFYVE27 cDNA. The mutation produced a gly191-to-val (G191V) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+610243

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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