HEXB S62L - GET-Evidence

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

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Curation:
Currentness:

HEXB S62L

(HEXB Ser62Leu)


Short summary

This variant was seen as a compound heterozygote with a 25kb deletion in the same gene in an individual with Infantile Sandhoff disease.

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Zhang ZX, Wakamatsu N, Akerman BR, Mules EH, Thomas GH, Gravel RA. A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. Hum Mol Genet. 1995 Apr;4(4):777-80. PubMed PMID: 7633435.

This variant was seen as a compound heterozygote with a 25kb deletion in the same gene in an individual with Infantile Sandhoff disease.

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.013 (benign)
    Web search results (4 hits -- see all)
  • GM2 Gangliosidoses: eMedicine Pediatrics: Genetics and ...
    ... of lysosomal lipid storage disorders caused by mutations in at least 1 of 3 recessive genes: HEXA, HEXB, and GM2A. Normal products of all 3 genes ...
    emedicine.medscape.com/article/951943-overview
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 799) Polymorphism (dbSNP:rs712270) HEXB P07686 S255R 255 VAR_011704 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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