NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) AND Pyruvate kinase deficiency of red cells

Clinical significance:Pathogenic (Last evaluated: Sep 15, 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:
RCV000001572.3

Allele description [Variation Report for NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)]

NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)

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.1151C>T (p.Thr384Met)
HGVS:
  • NC_000001.11:g.155293556G>A
  • NG_011677.1:g.12879C>T
  • NM_000298.6:c.1151C>TMANE SELECT
  • NM_181871.4:c.1058C>T
  • NP_000289.1:p.Thr384Met
  • NP_870986.1:p.Thr353Met
  • LRG_1136t1:c.1151C>T
  • LRG_1136:g.12879C>T
  • LRG_1136p1:p.Thr384Met
  • NC_000001.10:g.155263347G>A
  • P30613:p.Thr384Met
Protein change:
T353M; THR353MET
Links:
UniProtKB: P30613#VAR_004052; OMIM: 609712.0003; OMIM: 609712.0004; dbSNP: rs74315362
NCBI 1000 Genomes Browser:
rs74315362
Molecular consequence:
  • NM_000298.6:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181871.4:c.1058C>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
SCV000021727OMIMno assertion criteria providedPathogenic
(Sep 15, 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

Details of each submission

From OMIM, SCV000021727.1

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

Description

In 2 Japanese patients, born of consanguineous parents, with hereditary hemolytic anemia due to PK Tokyo (266200), Kanno et al. (1991) identified a homozygous 1151C-T transition in the PKLR gene, resulting in a thr384-to-met (T384M) substitution in a highly conserved residue at the end of the seventh alpha-helix of the A domain. Functional expression studies showed that the mutant enzyme had decreased stability. Each parent was heterozygous for the mutation.

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

Last Updated: Nov 27, 2021

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