HSD17B10 E249Q - GET-Evidence

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

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Curation:
Currentness:

HSD17B10 E249Q

(HSD17B10 Glu249Gln)


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: 0.984 (probably damaging)
    Web search results (13 hits -- see all)
  • Mental retardation linked to mutations in the HSD17B10 gene ...
    Mutations in the HSD17B10 gene were identified in two previously described mentally retarded males. ... The E249Q mutation appears to affect HSD10 subunit interactions, ...
    www.ncbi.nlm.nih.gov/pubmed/19706438
  • Philipp, M (Manfred)
    Philipp, M (Manfred) :: Influence of Leaving-Group Electronic Effect ... Mutations for in the HSD17B10 gene were identified in two previously described mentally retarded males. ...
    lib.bioinfo.pl/auid:7262913
  • Sutton, VR (Vernon R)
    Sutton, VR (Vernon R) :: Ethical and legal implications of genetic testing in androgen ... Mutations in the HSD17B10 gene were identified in two previously described mentally ...
    lib.bioinfo.pl/auid:7731245
  • Katja Martina Schöler Dr. med. Funktionelle Charakterisierung ...
    konnte so für die Mutanten R130C, Q165H, N247S und E249Q festgestellt werden. ... D86G, N247S und E249Q zu einem Verlust der thermischen Stabilität der ...
    archiv.ub.uni-heidelberg.de/volltextserver/.../Schoeler.pdf
  • Sulfur 27: Topics by WorldWideScience.org
    Information for Sulfur 27 from WorldWideScience.org. Get the latest ... The Sonic Enhanced Ash Agglomeration and Sulfur Capture program focuses upon the ...
    worldwidescience.org/topicpages/s/Sulfur+27.html
  • Dehydrogenation: Topics by WorldWideScience.org
    Home | About | News | Contact Us | Site Map | Topic List. Information for Dehydrogenation ... the steps of: (a) contacting the hydrocarbon with a dehydrogenation ...
    worldwidescience.org/topicpages/d/Dehydrogenation.html

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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