NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) AND Pyruvate kinase deficiency of red cells

Clinical significance:Pathogenic (Last evaluated: May 1, 1991)

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:
RCV000001571.2

Allele description [Variation Report for NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)]

NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)

Gene:
PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)
HGVS:
  • NC_000001.11:g.155295457G>A
  • NG_011677.1:g.10978C>T
  • NM_000298.6:c.487C>TMANE SELECT
  • NM_181871.4:c.394C>T
  • NP_000289.1:p.Arg163Cys
  • NP_870986.1:p.Arg132Cys
  • LRG_1136t1:c.487C>T
  • LRG_1136:g.10978C>T
  • LRG_1136p1:p.Arg163Cys
  • NC_000001.10:g.155265248G>A
  • P30613:p.Arg163Cys
Protein change:
R132C; ARG132CYS
Links:
UniProtKB: P30613#VAR_004033; OMIM: 609712.0002; dbSNP: rs118204083
NCBI 1000 Genomes Browser:
rs118204083
Molecular consequence:
  • NM_000298.6:c.487C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181871.4:c.394C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate kinase deficiency of red cells
Synonyms:
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009950; MedGen: C0340968; Orphanet: 766; OMIM: 266200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021726OMIMno assertion criteria providedPathogenic
(May 1, 1991)
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

Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W.

Blood. 1991 May 1;77(9):1871-5.

PubMed [citation]
PMID:
2018831

Details of each submission

From OMIM, SCV000021726.1

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

Description

In a boy of Turkish origin born in Linz, Austria, with pyruvate kinase deficiency (266200), Neubauer et al. (1991) identified a homozygous 394C-T transition in the PKLR gene, resulting in an arg132-to-cys (R132C) substitution. Before splenectomy at the age of 26 months, the patient had required 26 RBC transfusions; in the following 2 years, only 2 transfusions were required. The patient's parents were first cousins. The mutant enzyme showed markedly reduced specific activity and thermolability.

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

Last Updated: Oct 7, 2021

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