NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) AND Phosphoglycerate kinase 1 deficiency

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2006)

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:
RCV000010630.3

Allele description [Variation Report for NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)]

NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)

Gene:
PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)
Other names:
PGK Barcelona
HGVS:
  • NC_000023.11:g.78113767T>A
  • NG_008862.1:g.14599T>A
  • NM_000291.4:c.140T>AMANE SELECT
  • NP_000282.1:p.Ile47Asn
  • NC_000023.10:g.77369264T>A
Protein change:
I46N; ILE46ASN
Links:
OMIM: 311800.0011; dbSNP: rs137852536
NCBI 1000 Genomes Browser:
rs137852536
Molecular consequence:
  • NM_000291.4:c.140T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phosphoglycerate kinase 1 deficiency
Synonyms:
PGK1 DEFICIENCY
Identifiers:
MONDO: MONDO:0010392; MedGen: C1970848; Orphanet: 713; OMIM: 300653

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030856OMIMno assertion criteria providedPathogenic
(Feb 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL.

Br J Haematol. 2006 Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras, Josep [added].

PubMed [citation]
PMID:
16412025

Details of each submission

From OMIM, SCV000030856.1

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

Description

In a Spanish boy with PGK1 deficiency (300653), Noel et al. (2005) identified a 140T-A transversion in the PGK1 gene, resulting in an ile46-to-asn (I46N) substitution. He had a long history of chronic hemolytic anemia and progressive neurologic impairment leading to mental deterioration. No muscular dystrophy could be demonstrated. The mutation was present in heterozygous state in the patient's mother. Based on the crystal structure of porcine PGK, the I46N mutation did not modify any of the PGK binding sites for ATP or 3PG, so the consequences must be related to a loss of the enzyme stability rather than a decrease of enzyme catalytic function.

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

Last Updated: Apr 17, 2020

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