NM_020686.5(ABAT):c.659G>A (p.Arg220Lys) AND Gamma-aminobutyric acid transaminase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 11, 2009
Review status:: 1 star out of maximum of 4 stars
classified by single submitter

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:: RCV000017603.26

Allele description

NM_020686.5(ABAT):c.659G>A (p.Arg220Lys)

Gene:

ABAT:4-aminobutyrate aminotransferase [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

Preferred name:

NM_020686.5(ABAT):c.659G>A (p.Arg220Lys)

HGVS:

NC_000016.10:g.8768248G>A
NG_008432.1:g.98662G>A
NM_000663.4:c.659G>A
NM_020686.5:c.659G>A
NP_000654.2:p.Arg220Lys
NP_065737.2:p.Arg220Lys
NC_000016.9:g.8862105G>A

Protein change:

R220K; ARG220LYS

Links:

OMIM: 137150.0001; dbSNP: rs121434578

NCBI 1000 Genomes Browser:

rs121434578

Molecular consequence:

NM_020686.5:c.659G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Gamma-aminobutyric acid transaminase deficiency
Synonyms:: GABA-transaminase deficiency
Identifiers:: MedGen: C0342708; Orphanet: 2066; OMIM: 613163
Age of onset:: Childhood
Prevalence:: <1 / 1 000 000 2066

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037876	OMIM		Pathogenic (Dec 11, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 6148708, 10407778

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037876

OMIM

Pathogenic
(Dec 11, 2009)

germline

literature only

PubMed (2)
[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

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.

Jaeken J, Casaer P, de Cock P, Corbeel L, Eeckels R, Eggermont E, Schechter PJ, Brucher JM.

Neuropediatrics. 1984 Aug;15(3):165-9.

PubMed [citation]

PMID:: 6148708

4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM.

J Inherit Metab Dis. 1999 Jun;22(4):414-27. Review.

PubMed [citation]

PMID:: 10407778

Details of each submission

From OMIM, SCV000037876.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with GABA-transaminase deficiency (613163) reported by Jaeken et al. (1984), Medina-Kauwe et al. (1999) identified a 754A-G transition in the ABAT gene, resulting in an arg220-to-lys (R220K) substitution in a highly conserved residue. Expression of the mutant in E. coli, followed by isolation and enzymatic characterization of the recombinant protein, revealed an enzyme whose Vmax was reduced to 25% of wildtype activity. The second allele in the patient remained unidentified.

#	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: Dec 20, 2014

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