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:
current
Accession:
RCV000001578.3

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

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

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.389C>A (p.Ser130Tyr)
HGVS:
  • 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
Links:
UniProtKB: P30613#VAR_011443; OMIM: 609712.0010; dbSNP: rs118204089
NCBI 1000 Genomes Browser:
rs118204089
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]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
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

Citations

PubMed

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]
PMID:
9886305

Details of each submission

From OMIM, SCV000021734.2

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

Description

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.

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

Last Updated: Nov 27, 2021

Support Center