HEXB I207V - 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:

HEXB I207V

(HEXB Ile207Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr5:73992881: 12.5% (1348/10756) in EVS
  • G @ chr5:74028636: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 12.5% (1348/10756)

Publications
 

Genomes
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr5:73992881

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr5:73992881

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr5:73992881

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr5:73992881

 

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr5:74028637

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr5:74028637

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr5:74028637

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr5:74028637

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr5:74028637

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr5:74028637

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr5:74028637

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr5:74028637

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr5:74028637

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr5:74028637

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr5:74028637

 

Other external references
 

    dbSNP
  • rs10805890
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.119 (benign)
    Web search results (50 hits -- see all)
  • IngentaConnect Table Of Contents: Journal of the Neurological ...
    Nasal administration of multiple antigens suppresses experimental autoimmune myasthenia gravis, ... disease: R505Q and I207V substitutions in the HEXB gene of the first ...
    ingentaconnect.com/content/els/.../1998/00000155/00000001
  • A Hara - research profile on BiomedExperts
    Sign-in free and Explore the Exciting World of BiomedExperts: ... Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case. Journal ...
    www.biomedexperts.com/Profile.bme/529379/A_Hara
  • IngentaConnect Search Results
    10 articles with title/keywords/abstract containing foamy degeneration ... Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case ...
    ingentaconnect.com/...?database=1&title=foamy+degeneration
  • SciLink | A HARA
    Find, connect, and share with other scientists in the SciLink network. ... Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first ...
    www.scilink.com/profile.action?type=author&pk=364216
  • Sandhoff disease: Definition from Answers.com
    Sandhoff disease Definition Sandhoff disease is a relatively rare, genetically inherited disease that results in the progressive deterioration of the
    www.answers.com/topic/sandhoff-s-disease
  • TropHort: Top > Research > Chapter 8115
    Chapter 8115 provides information on scholary research in the basic and applied life and earth sciences ... disease: R505Q and I207V substitutions in the HEXB gene of the first ...
    trophort.com/research/008/114
  • 作成日:2005年3月7日
    Sakuraba H., Ohga K.: Specific concanavalin A-mediated binding of ... Sandhoff's disease : R505Q and I207V substitutions in the HEXB gene of the first ...
    www.my-pharm.ac.jp/~tssuzuki/%8C%A4%8B%86%8B%C6%90%D1.pdf
  • データベース 作成日:2009年3月30日 氏名:新本美智枝 所属:ゲノム動態プロジェクト 臨床研赴任年月:1989年4月1日
    1: Shimmoto M, FukuharaY,Itoh K, Oshima A, Sakuraba H, Suzuki Y. Protective ... R505Q and I207V substitutions in the HEXB gene of the first Japanese case.J ...
    www.rinshoken.or.jp/data/pdf_r/shimmoto-mc.pdf
  • Sandhoff disease - Wikipedia, the free encyclopedia
    Mutations in the HEXB gene cause Sandhoff disease. The gene provides instructions for ... or juvenile form they have a mutation on exon I207V from their ...
    en.wikipedia.org/wiki/Sandhoff_disease
  • Structure – function analysis of TIM-barrel proteins: The ...
    supervision of Prof. Amos Oppenheim. Submitted to the Senate of the Hebrew University of ... (HexB) is a homodimer of the β subunit. The homodimer of the α subunit is an. inactive ...
    1537812966490587474-a-1802744773732722657-s-sites.googleg...

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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