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NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) AND Sandhoff disease, adult form

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 8, 1993
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000004083.2

Allele description [Variation Report for NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)]

NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)

Gene:
HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.3
Genomic location:
Preferred name:
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
HGVS:
  • NC_000005.10:g.74720648G>A
  • NG_009770.2:g.85626G>A
  • NG_011531.1:g.51570C>T
  • NM_000521.4:c.1514G>AMANE SELECT
  • NM_001292004.2:c.839G>A
  • NP_000512.2:p.Arg505Gln
  • NP_001278933.1:p.Arg280Gln
  • NC_000005.9:g.74016473G>A
  • NM_000521.3:c.1514G>A
Protein change:
R280Q; ARG505GLN
Links:
OMIM: 606873.0009; dbSNP: rs121907983
NCBI 1000 Genomes Browser:
rs121907983
Molecular consequence:
  • NM_000521.4:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292004.2:c.839G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sandhoff disease, adult form
Synonyms:
Sandhoff disease, adult type
Identifiers:
MONDO: MONDO:0017723; MedGen: C0751489

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024249OMIM
no assertion criteria provided
Pathogenic
(Sep 8, 1993) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.

Oonk JG, van der Helm HJ, Martin JJ.

Neurology. 1979 Mar;29(3):380-4.

PubMed [citation]
PMID:
571983

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.

Bolhuis PA, Oonk JG, Kamp PE, Ris AJ, Michalski JC, Overdijk B, Reuser AJ.

Neurology. 1987 Jan;37(1):75-81.

PubMed [citation]
PMID:
2948136
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000024249.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In 2 sisters with adult Sandhoff disease (268800) presenting as spinocerebellar degeneration, reported by Oonk et al. (1979) and previously studied by Bolhuis et al. (1987), Bolhuis et al. (1993) found that the HEXB gene contained a G-to-A transition at nucleotide position 1514, resulting in a change in the electric charge at amino acid position 505 by substitution of glutamine for arginine in a highly conserved part of the beta chain. The nucleotide transition generated a new restriction site for DdeI, which was present in only 1 of the alleles. Bolhuis et al. (1993) demonstrated that the second allele was of mRNA-negative type. Thus, the patient was a genetic compound.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024