NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) AND Pyruvate kinase deficiency of red cells

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1998)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)]

NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)

PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)
  • NC_000001.11:g.155295555G>T
  • NG_011677.1:g.10880C>A
  • NM_000298.6:c.389C>AMANE SELECT
  • NM_181871.4:c.296C>A
  • NP_000289.1:p.Ser130Tyr
  • NP_870986.1:p.Ser99Tyr
  • LRG_1136t1:c.389C>A
  • LRG_1136:g.10880C>A
  • LRG_1136p1:p.Ser130Tyr
  • NC_000001.10:g.155265346G>T
  • P30613:p.Ser130Tyr
Protein change:
S130Y; SER130TYR
UniProtKB: P30613#VAR_011443; OMIM: 609712.0010; dbSNP: rs118204089
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000298.6:c.389C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181871.4:c.296C>A - missense variant - [Sequence Ontology: SO:0001583]


Pyruvate kinase deficiency of red cells
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes; See all synonyms [MedGen]
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)
SCV000021734OMIMno assertion criteria providedPathogenic
(Dec 1, 1998)
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



A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry).

Cohen-Solal M, Préhu C, Wajcman H, Poyart C, Bardakdjian-Michau J, Kister J, Promé D, Valentin C, Bachir D, Galactéros F.

Br J Haematol. 1998 Dec;103(4):950-6.

PubMed [citation]

Details of each submission

From OMIM, SCV000021734.2

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


Cohen-Solal et al. (1998) reported a Guinean woman with episodes of marked anemia, repeated typical metaphyseal painful crises, hemosiderosis, and pyruvate kinase deficiency (266200). Sequencing of the PKLR gene revealed a 2670C-A transversion in exon 5 of the PKLR gene, resulting in a ser130-to-tyr (S130Y) substitution, which the authors referred to as 'PK Conakry.' In addition, the patient carried a hemoglobin S variant, L80V (141850.0035), referred to as 'Hb Conakry,' which seemed to have a mild effect. The PK deficiency resulted in a high intraerythrocytic 2,3-DPG concentration and a decreased oxygen affinity which favored sickling to a level similar to that of S/C compound heterozygous patients.

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

Last Updated: Nov 27, 2021

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