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NM_000169.3(GLA):c.902G>A (p.Arg301Gln) AND Fabry disease, cardiac variant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 15, 2000
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:
RCV000011461.10

Allele description [Variation Report for NM_000169.3(GLA):c.902G>A (p.Arg301Gln)]

NM_000169.3(GLA):c.902G>A (p.Arg301Gln)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
HGVS:
  • NC_000023.11:g.101398467C>T
  • NG_007119.1:g.14497G>A
  • NM_000169.3:c.902G>AMANE SELECT
  • NM_001199973.2:c.300+3010C>T
  • NM_001199974.2:c.177+6645C>T
  • NM_001406747.1:c.1025G>A
  • NM_001406748.1:c.902G>A
  • NP_000160.1:p.Arg301Gln
  • NP_000160.1:p.Arg301Gln
  • NP_000160.1:p.Arg301Gln
  • NP_001393676.1:p.Arg342Gln
  • NP_001393677.1:p.Arg301Gln
  • LRG_672t1:c.902G>A
  • LRG_672:g.14497G>A
  • LRG_672p1:p.Arg301Gln
  • NC_000023.10:g.100653455C>T
  • NM_000169.2:c.902G>A
  • NR_164783.1:n.981G>A
  • NR_176252.1:n.832G>A
  • NR_176253.1:n.1039G>A
  • P06280:p.Arg301Gln
  • p.R301Q
Protein change:
R301Q; ARG301GLN
Links:
UniProtKB: P06280#VAR_000481; OMIM: 300644.0003; dbSNP: rs104894828
NCBI 1000 Genomes Browser:
rs104894828
Molecular consequence:
  • NM_001199973.2:c.300+3010C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+6645C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406747.1:c.1025G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406748.1:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.981G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176252.1:n.832G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176253.1:n.1039G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Fabry disease, cardiac variant
Identifiers:
MedGen: C1970820

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031693OMIM
no assertion criteria provided
Pathogenic
(Jun 15, 2000)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.

Sawada K, Mizoguchi K, Hishida A, Kaneko E, Koide Y, Nishimura K, Kimura M.

Clin Nephrol. 1996 May;45(5):289-94.

PubMed [citation]
PMID:
8738659

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y.

Am J Hum Genet. 1990 Nov;47(5):784-9.

PubMed [citation]
PMID:
2171331
PMCID:
PMC1683686
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000031693.1

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

Description

In a Japanese patient with Fabry disease following an atypical clinical course characterized by late-onset cardiac involvement and significant residual GLA (see 301500), Sakuraba et al. (1990) identified a G-to-A transition in exon 6 of the GLA gene, resulting in an arg301-to-gln (R301Q) substitution.

Sawada et al. (1996) identified the R301Q substitution in a 45-year-old man who developed moderate proteinuria and was found to have the renal histologic findings of Fabry disease, together with a decrease in activity of alpha-galactosidase A in his plasma, urine, leukocytes, and skin fibroblasts. The mutation was inherited from his mother. The patient was unique in that he demonstrated only renal manifestations, whereas all other patients with atypical Fabry disease, including a case with the identical point mutation (Sakuraba et al., 1990), presented with cardiomyopathy.

Kase et al. (2000) characterized this mutant and another, Q279E (300644.0008), in a patient with the cardiac variant of Fabry disease. In contrast to patients with classic Fabry disease, who have no detectable alpha-galactosidase activity, patients with these variants have residual enzyme activity. Compared to normal control cells, fibroblasts from a patient with the Q279E mutation secreted only small amounts of alpha-galactosidase. The authors concluded that these 2 substitutions do not significantly affect enzymatic activity, but the mutant protein levels are decreased presumably in the endoplasmic reticulum of cells.

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

Last Updated: Nov 3, 2024