SHH A226T - GET-Evidence

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

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Curation:
Currentness:

SHH A226T

(SHH Ala226Thr)


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: 0.548 (possibly damaging)
    Web search results (8 hits -- see all)
  • OMIM: 600725
    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.genome.jp/dbget-bin/www_bget?omim+600725
  • Table 2. Summary of Sequence Variations in SHH Sequence ...
    676G A A226T Missense. Roessler, Ward et. al 1997. 708C A S236R Missense ... hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=gene&...
  • HAL :: [hal-00169857, version 1] Functional characterization ...
    ... gene Sonic hedgehog (SHH) and alterations of SHH signaling have been associated ... Finally, one mutant harboring the A226T mutation displays an activity comparable ...
    hal.archives-ouvertes.fr/hal-00169857
  • Functional characterization of sonic hedgehog mutations ...
    Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH signaling have been associated with holoprosencephaly (HPE), a rare disorder ...
    www.medscape.com/medline/abstract/15292211?prt=true
  • Ruat, M (Martial)
    Ruat, M (Martial) :: Sonic Hedgehog signalling in the developing and adult brain. ... The due Sonic Hedgehog (Shh) signalling pathway plays an important role both in embryonic ...
    lib.bioinfo.pl/auid:1501559
  • David, V (Véronique)
    David, V (Véronique) :: Increased body iron stores in elite road cyclists. ... Two mutants (G31R, D222N) were associated with a lower production of SHH-N and signaling activity. ...
    lib.bioinfo.pl/auid:45732
  • Mendelian Inheritance in Man Document Reader
    Like its Drosophila cognate, Shh encodes a signal that is instrumental in patterning the early embryo. ... SHH gene resulting in an ala-to-thr substitution at codon 226 (A226T) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600725
  • UNIVERSIDADE ESTADUAL PAULISTA
    da sinalização do SHH no crescimento do processo frontonasal de galinha inibe ... resultados sugerem que mutações no gene SHH em indivíduos portadores de ...
    ibb.unesp.br/posgrad/teses/genetica_me_2008_claudia_berto...

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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