SHH P424A - GET-Evidence

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

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Curation:
Currentness:

SHH P424A

(SHH Pro424Ala)


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: 0.001 (benign)
    Web search results (6 hits -- see all)
  • Multiple Hits during Early Embryonic Development: Digenic ...
    An SHH mutation has been detected in multiple pedigrees, demonstrating autosomal ... has a deletion of 18p11, including the TGIF gene, and a mutation in SHH (P424A) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC385082/?tool=pubmed
  • REVIEW ARTICLE Multiple Hits during Early Embryonic ...
    (P424A). Interestingly, her phenotypically normal mother. has the same SHH mutation but ... the finding of 23 different SHH mutations. in 344 patients with HPE ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Table 2. Summary of Sequence Variations in SHH Sequence ...
    1270C G P424A Missense. Nanni et al 1999. 1308C T S436L Missense. Nanni et al 1999. Sequence ... hedgehog gene in holoprosencephaly: SHH mutations cause a significant ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=gene&...
  • Hum. Mol. Genet. -- Slavotinek and Biesecker 12 (Supplement 1 ...
    SHH+/P424A. Unknown. 4. Holoprosencephaly. TGIF+/T151A. SHH+/del378–380. Unknown. 4 ... SHH+/G290N. Unknown. 4. Familial Mediterranean fever. MEVF-/- SAA1 ...
    hmg.oxfordjournals.org/cgi/content-nw/full/.../R45/DDG099TB1
  • Genetic modifiers in human development and malformation ...
    SHH+/P424A. Unknown. 4. Holoprosencephaly. TGIF+/T151A. SHH+/del378–380. Unknown. 4 ... SHH+/G290N. Unknown. 4. Familial Mediterranean fever. MEVF-/- SAA1 ...
    hmg.oxfordjournals.org/cgi/content/full/12/.../R45/DDG099TB1
  • 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 = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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