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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(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);
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 -


Insufficiently evaluated benign

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)











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








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




Other external references

  • rs11556045
  • 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 ...
  • 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. ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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