NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) AND G6PD KERALA

Germline classification:: other (1 submission)
Last evaluated:: Apr 18, 2013
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:: RCV000011143.4

Allele description [Variation Report for NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)]

NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)

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.1039G>A (p.Glu347Lys)

Other names:

G6PD, GLU317LYS; G6PD Jamnaga; G6PD Kalyan; G6PD Kerala; G6PD Kerala-Kalyan; G6PD Rohini; p.Glu317Lys

HGVS:

NC_000023.11:g.154533044C>T
NG_009015.2:g.19529G>A
NM_000402.4:c.1039G>A
NM_001042351.3:c.949G>A
NM_001360016.2:c.949G>AMANE SELECT
NP_000393.4:p.Glu347Lys
NP_001035810.1:p.Glu317Lys
NP_001346945.1:p.Glu317Lys
NC_000023.10:g.153761259C>T
NM_000402.3:c.1039G>A
NM_001042351.1:c.949G>A
NM_001042351.2:c.949G>A
NM_001042351.3:c.949G>A
NM_001360016.2:c.949G>A

Protein change:

E317K; GLU317LYS

Links:

OMIM: 305900.0042; dbSNP: rs137852339

NCBI 1000 Genomes Browser:

rs137852339

Molecular consequence:

NM_000402.4:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: G6PD KERALA
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031370	OMIM	no assertion criteria provided	other (Apr 18, 2013)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 5673160, 6714978, 1303182

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031370

OMIM

no assertion criteria provided

other
(Apr 18, 2013)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Variants of red cell glucose-6-phosphate dehydrogenase among Asiatic Indians.

Azevedo E, Kirkman HN, Morrow AC, Motulsky AG.

Ann Hum Genet. 1968 May;31(4):373-9. No abstract available.

PubMed [citation]

PMID:: 5673160

A new glucose-6-phosphate dehydrogenase variant (G-6-PD Kalyan) found in a Koli family.

Ishwad CS, Naik SN.

Hum Genet. 1984;66(2-3):171-5.

PubMed [citation]

PMID:: 6714978

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000031370.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

G6PD Kerala (Azevedo et al., 1968) and G6PD Kalyan (Ishwad and Naik, 1984), 2 variants discovered in India, were thought to be distinct on the basis of their biochemical properties. Ahluwalia et al. (1992) demonstrated that the molecular defect is identical. Both have a glu317-to-lys mutation which causes a loss of 2 negative charges; this is in keeping with the very slow electrophoretic mobility of G6PD Kerala-Kalyan. Both are accompanied by only mild enzyme deficiency. In both, the mutation is a C-to-T transition in the CpG dinucleotide. The mutations were found in 2 populations that are entirely distinct linguistically and culturally with no known historical links. However, in light of the traditional occupation of the Koli tribal group inhabiting the Kalyan district of Bombay, namely, marine fishing, victims of bad weather may have found their way to distant places where they were forced to live for some period, thus creating the possibility of gene flow.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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