NM_000041.3(APOE):c.736C>T (p.Arg246Cys) AND APOE2-DUNEDIN

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1991
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:: RCV000019442.24

Allele description

NM_000041.3(APOE):c.736C>T (p.Arg246Cys)

Gene:

APOE:apolipoprotein E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000041.3(APOE):c.736C>T (p.Arg246Cys)

HGVS:

NC_000019.10:g.44909032C>T
NG_007084.2:g.8251C>T
NM_000041.3:c.736C>T
NP_000032.1:p.Arg246Cys
NC_000019.9:g.45412289C>T
NM_000041.2:c.736C>T
P02649:p.Arg246Cys

Protein change:

R228C; ARG228CYS

Links:

UniProtKB: P02649#VAR_000666; OMIM: 107741.0012; dbSNP: rs121918395

NCBI 1000 Genomes Browser:

rs121918395

Allele Frequency:

0.0002, GO-ESP

Molecular consequence:

NM_000041.3:c.736C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: APOE2-DUNEDIN
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039732	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1991)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039732

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1991)

germline

literature only

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

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

Two apolipoprotein E5 variants illustrate the importance of the position of additional positive charge on receptor-binding activity.

Wardell MR, Rall SC Jr, Schaefer EJ, Kane JP, Weisgraber KH.

J Lipid Res. 1991 Mar;32(3):521-8.

PubMed [citation]

PMID:: 1648586

Details of each submission

From OMIM, SCV000039732.2

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

Description

In identical twin brothers with the E2/2 phenotype but with type IV/V hyperlipoproteinemia, Wardell et al. (1990) found compound heterozygosity for the arg158-to-cys mutation and a second unusual mutation representing a substitution of cysteine for arginine at position 228.

#	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 21, 2017

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