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NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) AND G6PD CHATHAM

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:
RCV000011081.13

Allele description [Variation Report for NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)]

NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)

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.1093G>A (p.Ala365Thr)
Other names:
G6PD, ALA335THR; G6PD Chatham
HGVS:
  • NC_000023.11:g.154532990C>T
  • NG_009015.2:g.19583G>A
  • NM_000402.4:c.1093G>A
  • NM_001042351.3:c.1003G>A
  • NM_001360016.2:c.1003G>AMANE SELECT
  • NP_000393.4:p.Ala365Thr
  • NP_001035810.1:p.Ala335Thr
  • NP_001035810.1:p.Ala335Thr
  • NP_001035810.1:p.Ala335Thr
  • NP_001346945.1:p.Ala335Thr
  • NC_000023.10:g.153761205C>T
  • NM_000402.3:c.1093G>A
  • NM_001042351.1:c.1003G>A
  • NM_001042351.2:c.1003G>A
  • NM_001042351.3:c.1003G>A
  • NM_001360016.2:c.1003G>A
Protein change:
A335T; ALA335THR
Links:
OMIM: 305900.0003; dbSNP: rs5030869
NCBI 1000 Genomes Browser:
rs5030869
Molecular consequence:
  • NM_000402.4:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD CHATHAM
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031308OMIM
no assertion criteria provided
other
(May 24, 2017) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.

Vulliamy TJ, Wanachiwanawin W, Mason PJ, Luzzatto L.

Nucleic Acids Res. 1989 Jul 25;17(14):5868. No abstract available.

PubMed [citation]
PMID:
2503817
PMCID:
PMC318229

Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran.

Mesbah-Namin SA, Sanati MH, Mowjoodi A, Mason PJ, Vulliamy TJ, Noori-Daloii MR.

Br J Haematol. 2002 Jun;117(3):763-4.

PubMed [citation]
PMID:
12028056

Details of each submission

From OMIM, SCV000031308.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Substitution of adenine for guanine at nucleotide 1003 leads to substitution of alanine by threonine at amino acid position 335 (Vulliamy et al., 1988). This mutation has been found in 2 unrelated Asian Indians and in a man from Syria and may be polymorphic. It causes class 2 enzyme derangement. No change in restriction sites has been found.

Mesbah-Namin et al. (2002) reported the first investigation of G6PD deficiency (300908) among the Mazandaranians of northern Iran. They analyzed the G6PD gene in 74 unrelated G6PD-deficient males with a history of favism. Molecular analysis revealed 3 different major polymorphic variants: G6PD Mediterranean (305900.0006) was found in 49 (66.2%), G6PD Chatham in 20 (27%), and G6PD Cosenza in 5 (6.75%) of the patients. The prevalence of G6PD Chatham in this Iranian population was the highest in the world. The distribution of the G6PD variants was more similar to that found in an Italian population than in other Middle Eastern countries.

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

Last Updated: Oct 20, 2024