SHH D88V - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SHH D88V

(SHH Asp88Val)


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: 0.314 (possibly damaging)
    Web search results (14 hits -- see all)
  • The mode of Hedgehog binding to Ihog homologs is not ...
    A calcium-binding site on Shh is important for interactions with CDOFn3 ... of-function phenotype of the D88V mutation in Shh suggests that effects of this ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2679680/?tool=pubmed
  • Molecular mechanisms of Sonic hedgehog mutant effects in ...
    The Shh member of the Hedgehog protein family plays critical roles in the ... To clarify the effects of SHH mutations in human HPE, we have undertaken a ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1282174
  • OMIM: 600725
    Like its Drosophila cognate, Shh encodes a signal that is ... Six members of the family over 2 generations carried an asp88-to-val mutation in the SHH gene (D88V; 600725.0015) ...
    www.genome.jp/dbget-bin/www_bget?omim+600725
  • uu
    ... [W]O^-%C7EYW^_*3%R]>\W:GC6O[S-O2?O"F<4_= M6W?IAMN.7'AT^4D/_/'IX1 ... O,NVL\YJ]/WZ#;^=.W+<B">? M>.JIIY\^ZP)O:I.'OAC\S+Z#3SB\S9;WO8%G[O ...
    cs.utexas.edu/users/moore/acl2/workshop-2003/contrib/.../uu
  • ANNUAL REPORT No.56 2006
    ... at the N terminus, is the active ligand in the Shh signal transduction pathway. ... seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and ...
    www.nig.ac.jp/labs/AnnualRp/AR2005e/56cb.html
  • 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
  • Mendelian Inheritance in Man Document Reader
    Like its Drosophila cognate, Shh encodes a signal that is instrumental in ... The mouse, chicken, and zebrafish Shh homologs are highly conserved (Marigo et ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600725

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in