RGD Reference Report - Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. - Rat Genome Database

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

Authors: 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 
Citation: Oikawa S, etal., J Am Soc Nephrol. 1997 May;8(5):820-3.
RGD ID: 6903202
Pubmed: PMID:9176854   (View Abstract at PubMed)

Lipoprotein glomerulopathy (LPG) is a novel disease characterized by proteinuria, lipoprotein thrombi in the glomeruli, and increased concentration of plasma apolipoprotein (apo) E. It is believed that a genetic disorder of apo E may be present and associated with the disease. Three patients with LPG were examined in this study. The patients' DNA sequences were analyzed, and a nucleotide G to C point mutation in exon 4 of the apo E gene was confirmed in each patient. This missense mutation denotes amino acid substitution of the proline residue for arginine residue at position 145 of apo E. This variant (apo E Sendai) may cause a marked molecular conformational change of the apo E. These findings suggest that a novel variant is etiologically related to LPG.



Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Apoe  (apolipoprotein E)

Genes (Mus musculus)
Apoe  (apolipoprotein E)

Genes (Homo sapiens)
APOE  (apolipoprotein E)


Additional Information