SHH W117R - GET-Evidence

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

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Curation:
Currentness:

SHH W117R

(SHH Trp117Arg)


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: 1.0 (probably damaging)
    Web search results (14 hits -- see all)
  • Molecular mechanisms of Sonic hedgehog mutant effects in ...
    The Shh member of the Hedgehog protein family plays critical roles in the ... of signaling potency for W117G and W117R proteins was surprising in light of ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1282174
  • OMIM: 600725
    The SHH clone encodes a predicted protein 92.4% identical to its ... SHH mutations identified in HPE patients: W117G (600725.0004) and W117R (600725. ...
    www.genome.jp/dbget-bin/www_bget?omim+600725
  • Table 2. Summary of Sequence Variations in SHH Sequence ...
    349T C W117R Missense. Roessler et al. 1996. 474C G Y158X Nonsense. Odent ... hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=gene&...
  • ANNUAL REPORT No.56 2006
    ... at the N terminus, is the active ligand in the Shh signal transduction pathway. ... other alterations, W117G and W117R, cause temperature-dependent misfolding and ...
    www.nig.ac.jp/labs/AnnualRp/AR2005e/56cb.html
  • HAL :: [hal-00169857, version 1] Functional characterization ...
    ... active SHH-N fragment was dramatically impaired for eight mutants (W117R, W117G, H140P, ... (G31R, D222N) were associated with a lower production of SHH-N and signaling activity. ...
    hal.archives-ouvertes.fr/hal-00169857
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • Identification of a palmitic acid-modified form of human ...
    BioInfoBank Library :: Identification of a palmitic acid-modified form of human Sonic hedgehog. The sonic hedgehog-patched-gli pathway in human development and ...
    lib.bioinfo.pl/pmid:9593755
  • Molecular mechanisms of Sonic hedgehog mutant effects in ...
    Holoprosencephaly (HPE), a human developmental brain defect, usually is also associated with varying degrees of midline facial dysmorphism.
    www.medscape.com/medline/abstract/16282375?prt=true
  • Cyclopia and defective axial patterning in mice lacking Sonic ...
    BioInfoBank Library :: Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Targeted disruption of Tgif, the mouse ortholog of a ...
    lib.bioinfo.pl/pmid:8837770
  • Shh - sonic hedgehog
    Thus Shh may have therapeutic value as a protective agent in neurodegenerative disease. ... Here, we show Shh and Gli1 immunoreactivity in adult human ...
    www.ihop-net.org/UniPub/iHOP/gismo/322201.html

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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