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NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) AND Pyruvate kinase deficiency of red cells

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003318511.3

Allele description [Variation Report for NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)]

NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)

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.1277G>A (p.Arg426Gln)
HGVS:
  • NC_000001.11:g.155293336C>T
  • NG_011677.1:g.13099G>A
  • NM_000298.6:c.1277G>AMANE SELECT
  • NM_181871.4:c.1184G>A
  • NP_000289.1:p.Arg426Gln
  • NP_870986.1:p.Arg395Gln
  • LRG_1136t1:c.1277G>A
  • LRG_1136:g.13099G>A
  • LRG_1136p1:p.Arg426Gln
  • NC_000001.10:g.155263127C>T
Protein change:
R395Q
Links:
dbSNP: rs768002493
NCBI 1000 Genomes Browser:
rs768002493
Molecular consequence:
  • NM_000298.6:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181871.4:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935295Department of Traditional Chinese Medicine, Fujian Provincial Hospital
no assertion criteria provided
Likely pathogenicbiparentalclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Details of each submission

From Department of Traditional Chinese Medicine, Fujian Provincial Hospital, SCV003935295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The mutation causes a single amino acid substitution from Arg to Gln at the 426th amino acid residue of human R-type PK; consequently, the hydrophobicity around the mutated site is drastically decreased. The amino acid change occurred in the eighth alpha helix of A domain (A alpha 8) of PK, and it has been proposed that this region as well as A alpha 7, A beta 7, and A beta 8 is a potassium (K+) binding site. Because K+ binding to the PK subunit is considered to be essential for substrate binding, the mutation might account for the decreased affinity for phosphoenolpyruvate (PEP).（PMID：8481523） In our study, we found the same mutation, so we think it's likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 4, 2024