NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND GM1 gangliosidosis type 3

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000000974.4

Allele description [Variation Report for NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)]

NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)
HGVS:
  • NC_000003.12:g.33072637A>G
  • NG_009005.1:g.29566T>C
  • NM_000404.4:c.152T>CMANE SELECT
  • NM_001079811.3:c.62T>C
  • NM_001135602.3:c.152T>C
  • NM_001317040.2:c.296T>C
  • NM_001393580.1:c.152T>C
  • NP_000395.3:p.Ile51Thr
  • NP_001073279.2:p.Ile21Thr
  • NP_001129074.2:p.Ile51Thr
  • NP_001303969.2:p.Ile99Thr
  • NP_001380509.1:p.Ile51Thr
  • NC_000003.11:g.33114129A>G
  • NM_000404.2:c.152T>C
Protein change:
I21T; ILE51THR
Links:
OMIM: 611458.0004; dbSNP: rs72555390
NCBI 1000 Genomes Browser:
rs72555390
Molecular consequence:
  • NM_000404.4:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.62T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.296T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393580.1:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GM1 gangliosidosis type 3 (GM1G3)
Synonyms:
GM1-GANGLIOSIDOSIS, TYPE III; GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE; GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009262; MedGen: C0268273; OMIM: 230650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021124OMIMno assertion criteria providedPathogenic
(Mar 1, 1992)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. Am. J. Hum. Genet. 49: 566-574, 1991.

Summary from all submissions

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

Citations

PubMed

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y.

Am J Hum Genet. 1991 Aug;49(2):435-42.

PubMed [citation]
PMID:
1907800
PMCID:
PMC1683306

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.

Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, et al.

Ann Neurol. 1992 Mar;31(3):328-32.

PubMed [citation]
PMID:
1353343

Details of each submission

From OMIM, SCV000021124.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 6 Japanese patients with the adult/chronic form of GM1-gangliosidosis (GM1G3; 230650), Nishimoto et al. (1991) identified a 152T-C transition in the GLB1 gene, resulting in an ile51-to-thr (I51T) substitution.

Yoshida et al. (1991, 1992) found the I51T mutation in Japanese patients with adult GM1-gangliosidosis. The authors stated that the nucleotide change was 186T-C. All patients except 1 were homozygotes. One patient was a compound heterozygote with an R457Q mutation (611458.0008). Clinically, the compound heterozygous patient showed more severe neurologic manifestations and a more rapid clinical course than did the homozygotes. The I51T allele showed 5.28 to 7.28% residual enzyme activity, whereas the compound heterozygous patient had 4.24% residual activity. The mutations causing residual enzyme activity appeared to be related to severity of clinical manifestations, but other genetic or environmental factors likely also contributed to the phenotype since there was considerable variation in age of onset and clinical course among I51T homozygotes.

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

Last Updated: Nov 11, 2021

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