NM_000483.4(APOC2):c.229A>C (p.Lys77Gln) AND APOLIPOPROTEIN C-II (AFRICAN)

Clinical significance:Pathogenic (Last evaluated: Feb 1, 1986)

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:
RCV000002682.2

Allele description [Variation Report for NM_000483.4(APOC2):c.229A>C (p.Lys77Gln)]

NM_000483.4(APOC2):c.229A>C (p.Lys77Gln)

Genes:
APOC4-APOC2:APOC4-APOC2 readthrough (NMD candidate) [Gene - HGNC]
APOC2:apolipoprotein C2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000483.4(APOC2):c.229A>C (p.Lys77Gln)
Other names:
APOC2, LYS55GLN
HGVS:
  • NC_000019.10:g.44949172A>C
  • NG_008837.1:g.8187A>C
  • NM_000483.4:c.229A>C
  • NP_000474.2:p.Lys77Gln
  • NC_000019.9:g.45452429A>C
  • P02655:p.Lys77Gln
Protein change:
K77Q
Links:
UniProtKB: P02655#VAR_000642; OMIM: 608083.0001; dbSNP: rs5126
NCBI 1000 Genomes Browser:
rs5126
Molecular consequence:
  • NM_000483.4:c.229A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
APOLIPOPROTEIN C-II (AFRICAN)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022840OMIMno assertion criteria providedPathogenic
(Feb 1, 1986)
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

A variant primary structure of apolipoprotein C-II in individuals of African descent.

Menzel HJ, Kane JP, Malloy MJ, Havel RJ.

J Clin Invest. 1986 Feb;77(2):595-601.

PubMed [citation]
PMID:
3944271
PMCID:
PMC423392

Details of each submission

From OMIM, SCV000022840.1

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

Description

Menzel et al. (1986) showed that about 12% of Americans of African ancestry have a variant of apoC-II, an isoform with substitution of glutamine for lysine at residue 55. This isoform could have been generated by either of 2 single-base exchanges.

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

Last Updated: Mar 30, 2019

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