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NM_000402.4(G6PD):c.632A>T (p.Asp211Val) AND G6PD MALAGA

Germline classification:
other (1 submission)
Last evaluated:
May 24, 2017
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:
RCV000030892.6

Allele description

NM_000402.4(G6PD):c.632A>T (p.Asp211Val)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
Other names:
G6PD, ASP181VAL; G6PD Malaga
HGVS:
  • NC_000023.11:g.154534440T>A
  • NG_009015.2:g.18133A>T
  • NM_000402.4:c.632A>T
  • NM_001042351.3:c.542A>T
  • NM_001360016.2:c.542A>TMANE SELECT
  • NP_000393.4:p.Asp211Val
  • NP_001035810.1:p.Asp181Val
  • NP_001035810.1:p.Asp181Val
  • NP_001346945.1:p.Asp181Val
  • NC_000023.10:g.153762655T>A
  • NG_009015.1:g.18133A>T
  • NM_001042351.1:c.542A>T
  • NM_001042351.2:c.542A>T
Protein change:
D181V; ASP181VAL
Links:
OMIM: 305900.0023; OMIM: 305900.0049; dbSNP: rs5030872
NCBI 1000 Genomes Browser:
rs5030872
Molecular consequence:
  • NM_000402.4:c.632A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.542A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD MALAGA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031378OMIM
no assertion criteria provided
other
(May 24, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia.

Vulliamy TJ, Kaeda JS, Ait-Chafa D, Mangerini R, Roper D, Barbot J, Mehta AB, Athanassiou-Metaxa M, Luzzatto L, Mason PJ.

Br J Haematol. 1998 Jun;101(4):670-5.

PubMed [citation]
PMID:
9674740

Details of each submission

From OMIM, SCV000031378.4

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

Description

In a study of G6PD-deficient patients who presented with clinical favism in Spain, Vulliamy et al. (1996) found a new polymorphic variant they called G6PD Malaga, whose only abnormality was an A-to-T transversion at nucleotide 542 resulting in an asp181-to-val amino acid substitution. This was the same mutation previously found in association with the mutation of G6PD A-, namely asn126asp (305900.0001) in the double mutant G6PD Santamaria (305900.0023). G6PD Malaga was associated with enzyme deficiency class 3, and the enzymic properties of G6PD Malaga and G6PD Santamaria were quite similar. Vulliamy et al. (1996) speculated that G6PD Santamaria might have been produced by recombination between G6PDA and G6PD Malaga; however, haplotype analysis, including the use of a new silent polymorphism, suggested that the same 542A-T mutation had taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria.

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

Last Updated: Aug 26, 2023