HEXB K121R - 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.

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Curation:
Currentness:

HEXB K121R

(HEXB Lys121Arg)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 81.64
GD 0.00 Class C0 Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.59);
PolyPhen=benign(0);
Condel=neutral(0.391) Mutation Tasting Prediction: Polymorphism, P value: 0.999999
protein features (might be) affected (aa 43-121 PROPEP /FTId=PRO_0000012002 gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(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 @ chr5:73985215: 19.9% (2138/10758) in EVS
  • G @ chr5:74020970: 15.8% (19/120) in GET-Evidence
  • Frequency shown in summary reports: 19.9% (2138/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr5:73985215

 

 

 

 

huBEDA0B

 

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr5:74020971

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr5:74020971

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr5:74020971

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr5:74020971

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr5:74020971

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr5:74020971

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr5:74020971

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr5:74020971

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr5:74020971

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr5:74020971

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr5:74020971

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr5:74020971

 

NA12878

 

Other external references
 

    dbSNP
  • rs11556045
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (10 hits -- see all)
  • AceView: Gene:HEXB, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=HEXB
  • Genetic Variation in an Individual Human Exome
    HEXB. MAF = 0.22. Observed in a patient with juvenile Sandhoff disease, but the patient ... K121R. Predicted to be functionally neutral. rs4880. SOD2. MAF = 0.44. ...
    univie.ac.at/nutrigenomics/.../WS0910/Genetic_variation.pdf
  • OMIM: 606873
    ... of mammalian Hexb in controlling Mm growth using macrophages from Hexb -/- mice. ... induced Hexb secretion, suggesting that Mm comes into contact with Hexb at the ...
    www.genome.jp/dbget-bin/www_bget?omim+606873
  • UF > HOS 4304 > Ng08 (2009-01-10 18:36:56)
    Variation Genetic in an Individual Human Exome Pauline C. Ng*, Samuel ... to affect protein function.c rs2303067 E422K rs11556045 K121R rs4880 A16V SOD2 HEXB SPINK5 MAF = 0.48. ...
    www.coursehero.com/file/888596/Ng08

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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