NM_006488.3(KHK):c.118G>A (p.Gly40Arg) AND Fructosuria, essential

Clinical significance:Affects (Last evaluated: Sep 1, 1994)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012811.6

Allele description [Variation Report for NM_006488.3(KHK):c.118G>A (p.Gly40Arg)]

NM_006488.3(KHK):c.118G>A (p.Gly40Arg)

Gene:
KHK:ketohexokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_006488.3(KHK):c.118G>A (p.Gly40Arg)
Other names:
KHK, GLY40ARG (rs104893643)
HGVS:
  • NC_000002.12:g.27092357G>A
  • NG_012199.1:g.10615G>A
  • NM_000221.3:c.118G>A
  • NM_006488.3:c.118G>AMANE SELECT
  • NP_000212.1:p.Gly40Arg
  • NP_006479.1:p.Gly40Arg
  • NC_000002.11:g.27315225G>A
  • P50053:p.Gly40Arg
Protein change:
G40R; GLY40ARG
Links:
UniProtKB: P50053#VAR_006072; OMIM: 614058.0001; dbSNP: rs104893643
NCBI 1000 Genomes Browser:
rs104893643
Molecular consequence:
  • NM_000221.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006488.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fructosuria, essential
Synonyms:
HEPATIC FRUCTOKINASE DEFICIENCY; KETOHEXOKINASE DEFICIENCY
Identifiers:
MONDO: MONDO:0009252; MedGen: C0268160; Orphanet: 2056; OMIM: 229800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033051OMIMno assertion criteria providedAffects
(Sep 1, 1994)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).

Bonthron DT, Brady N, Donaldson IA, Steinmann B.

Hum Mol Genet. 1994 Sep;3(9):1627-31.

PubMed [citation]
PMID:
7833921

Details of each submission

From OMIM, SCV000033051.4

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

Description

In a Swiss family in which 3 of 8 sibs had essential fructosuria (229800), Bonthron et al. (1994) found compound heterozygosity for 2 mutations in the KHK gene: a 121G-A transition, resulting in a gly40-to-arg (G40R) substitution, and a 135G-A transition, resulting in an ala43-to-thr (A43T; 614058.0002) substitution. Both mutations altered the same conserved region of the KHK protein. An additional conservative amino acid change (val49-to-ile; V49I) was present on the KHK allele bearing A43T. Because the parents were third cousins, it was anticipated that homozygosity for a single mutation would be found. The father was homozygous for I49 and the mother was homozygous for V49.

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

Last Updated: Apr 17, 2020

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