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NM_006721.4(ADK):c.89G>A (p.Gly30Glu) AND Adenosine kinase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 7, 2011
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:
RCV000022445.26

Allele description [Variation Report for NM_006721.4(ADK):c.89G>A (p.Gly30Glu)]

NM_006721.4(ADK):c.89G>A (p.Gly30Glu)

Gene:
ADK:adenosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_006721.4(ADK):c.89G>A (p.Gly30Glu)
HGVS:
  • NC_000010.11:g.74200787G>A
  • NG_030484.2:g.54603G>A
  • NM_001123.4:c.38G>A
  • NM_001202449.2:c.38G>A
  • NM_001202450.2:c.89G>A
  • NM_001369123.1:c.89G>A
  • NM_001369124.1:c.38G>A
  • NM_006721.4:c.89G>AMANE SELECT
  • NP_001114.2:p.Gly13Glu
  • NP_001189378.1:p.Gly13Glu
  • NP_001189379.1:p.Gly30Glu
  • NP_001356052.1:p.Gly30Glu
  • NP_001356053.1:p.Gly13Glu
  • NP_006712.2:p.Gly30Glu
  • NC_000010.10:g.75960545G>A
  • P55263:p.Gly30Glu
Protein change:
G13E; GLY13GLU
Links:
UniProtKB: P55263#VAR_066640; OMIM: 102750.0003; dbSNP: rs397514454
NCBI 1000 Genomes Browser:
rs397514454
Molecular consequence:
  • NM_001123.4:c.38G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202449.2:c.38G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202450.2:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369123.1:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369124.1:c.38G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006721.4:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Adenosine kinase deficiency
Synonyms:
Hypermethioninemia due to adenosine kinase deficiency; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
Identifiers:
MONDO: MONDO:0100255; MedGen: C4706555; Orphanet: 289290; Orphanet: 88616; OMIM: 614300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043734OMIM
no assertion criteria provided
Pathogenic
(Oct 7, 2011) 		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

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A.

Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub 2011 Sep 28.

PubMed [citation]
PMID:
21963049
PMCID:
PMC3188832

Details of each submission

From OMIM, SCV000043734.1

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

Description

In 2 Malaysian sibs with hypermethioninemia due to adenosine kinase deficiency (614300), Bjursell et al. (2011) identified a homozygous 38G-A transition in the ADK gene, resulting in a gly13-to-glu (G13E) substitution close to the binding site for adenosine. Each unaffected parent was heterozygous for the mutation. In vitro functional expression studies in E. coli showed that the mutant protein had about 10% residual enzymatic activity compared to wildtype.

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

Last Updated: Apr 23, 2022