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NM_000041.4(APOE):c.488G>C (p.Arg163Pro) AND Lipoprotein glomerulopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 6, 2000
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:
RCV000019466.26

Allele description [Variation Report for NM_000041.4(APOE):c.488G>C (p.Arg163Pro)]

NM_000041.4(APOE):c.488G>C (p.Arg163Pro)

Gene:
APOE:apolipoprotein E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000041.4(APOE):c.488G>C (p.Arg163Pro)
Other names:
R145P
HGVS:
  • NC_000019.10:g.44908784G>C
  • NG_007084.2:g.8003G>C
  • NM_000041.4:c.488G>CMANE SELECT
  • NM_001302688.2:c.566G>C
  • NM_001302689.2:c.488G>C
  • NM_001302690.2:c.488G>C
  • NM_001302691.2:c.488G>C
  • NP_000032.1:p.Arg163Pro
  • NP_001289617.1:p.Arg189Pro
  • NP_001289618.1:p.Arg163Pro
  • NP_001289619.1:p.Arg163Pro
  • NP_001289620.1:p.Arg163Pro
  • NC_000019.9:g.45412041G>C
  • P02649:p.Arg163Pro
Protein change:
R163P; ARG145PRO
Links:
UniProtKB: P02649#VAR_042735; OMIM: 107741.0032; dbSNP: rs121918397
NCBI 1000 Genomes Browser:
rs121918397
Molecular consequence:
  • NM_000041.4:c.488G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302688.2:c.566G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302689.2:c.488G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302690.2:c.488G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302691.2:c.488G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lipoprotein glomerulopathy (LPG)
Identifiers:
MONDO: MONDO:0012725; MedGen: C2673196; Orphanet: 329481; OMIM: 611771

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039756OMIM
no assertion criteria provided
Pathogenic
(Oct 6, 2000) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.

Oikawa S, Matsunaga A, Saito T, Sato H, Seki T, Hoshi K, Hayasaka K, Kotake H, Midorikawa H, Sekikawa A, Hara S, Abe K, Toyota T, Jingami H, Nakamura H, Sasaki J.

J Am Soc Nephrol. 1997 May;8(5):820-3.

PubMed [citation]
PMID:
9176854

Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice.

Ishigaki Y, Oikawa S, Suzuki T, Usui S, Magoori K, Kim DH, Suzuki H, Sasaki J, Sasano H, Okazaki M, Toyota T, Saito T, Yamamoto TT.

J Biol Chem. 2000 Oct 6;275(40):31269-73.

PubMed [citation]
PMID:
10903326

Details of each submission

From OMIM, SCV000039756.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 3 Japanese patients with lipoprotein glomerulopathy (LPG; 611771), Oikawa et al. (1997) identified heterozygosity for a G-to-C transversion in exon 4 of the APOE gene that resulted in substitution of proline for arginine at codon 145 (R145P). Two of the patients were related as parent and child; the third patient was unrelated to them. Oikawa et al. (1997) termed the mutation 'APOE Sendai' for the proband's city of origin.

Ishigaki et al. (2000) introduced APOE Sendai into ApoE-deficient hypercholesterolemic mice using adenovirus-mediated gene transfer and observed insufficient correction of hypercholesterolemia and a marked and temporal induction of plasma triglyceride levels. In vitro binding studies demonstrated reduced affinity of APOE-Sendai for the low density lipoprotein receptor (LDLR; 606945), suggesting that dysbetalipoproteinemia in LPG is caused by the APOE mutation. Histologic examination revealed marked intraglomerular depositions of APOE-containing lipoproteins.

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

Last Updated: Apr 23, 2022