SHH G31R - GET-Evidence

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

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Curation:
Currentness:

SHH G31R

(SHH Gly31Arg)


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: 0.574 (possibly damaging)
    Web search results (22 hits -- see all)
  • Molecular mechanisms of Sonic hedgehog mutant effects in ...
    The Shh member of the Hedgehog protein family plays critical roles in the ... The additional processing reaction in the G31R-Shh protein (Fig. 3 A and F) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1282174
  • OMIM: 600725
    The mouse, chicken, and zebrafish Shh homologs are highly conserved (Marigo et al., 1995) ... including G31R, appeared to have a dominant-negative effect on SHH activity when ...
    www.genome.jp/dbget-bin/www_bget?omim+600725
  • Table 2. Summary of Sequence Variations in SHH Sequence ...
    91G A G31R Missense. Roessler et al. 1996. 263 A D88V Missense. Nanni et ... 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
    ... with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development. ... seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, ...
    www.nig.ac.jp/labs/AnnualRp/AR2005e/56cb.html
  • HAL :: [hal-00169857, version 1] Functional characterization ...
    Two mutants (G31R, D222N) were associated with a lower production of SHH-N and signaling ... SHH mutations analyzed have a deleterious effect on the availability ...
    hal.archives-ouvertes.fr/hal-00169857
  • • Printable Artist Bio PDF
    ... < /F5 7 0 R /F10 10 0 R /F3 13 0 R /F2 16 0 R /F8 19 0 R /F6 22 0 ... i8p_\2`oa>*EU49H/bcA5#2kAiep4AW.XUp5NfB_cJh%> lGCKtUBft_:(32mTBfgP/shh^'Kb ...
    www.blakerichardson.com/Artist Bio Pdf 06
  • Directory of Researchers in Kobe University
    A collaboration hope theme. Theme. Request. 2008Year(Fiscal) Research activities outline ... Sonic Hedgehog(SHH)遺伝子に本邦で初めてミスセンス変異(G31R)を同定できた全前脳胞症の1例. English. Author. Original. 親里 嘉展 ; ...
    kuid.ofc.kobe-u.ac.jp/InfoSearch/Detail.do?...+IBQ3mbe3w==
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Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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