Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L99P
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APOA1

NM_000039.3:p.L99P

Associated Papers

Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.

Bhale AS et al.

International Journal of Biological Macromolecules, 2026

Enhanced analytic methodology enables postmortem diagnosis of hereditary AApoAI amyloidosis.

Theis JL et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

Yagi S et al.

Human Genome Variation, 2024

Transcatheter edge-to-edge repair for tricuspid valve regurgitation in apolipoprotein A-I-associated cardiac amyloidosis: case report.

Alomari M et al.

European Heart Journal. Case Reports, 2023

Echocardiographic findings in subjects with an amyloidogenic apolipoprotein A1 pathogenic variant.

Tomasoni D et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023

Delineating the impact of pathogenic mutations on the conformational dynamics of HDL's vital protein ApoA1: a combined computational and molecular dynamic simulation approach.

Bhale AS et al.

Journal of Biomolecular Structure & Dynamics, 2023

Hereditary Apolipoprotein A-I-Associated Cardiac Amyloidosis: Importance of Endomyocardial Biopsy When Suspicion Remains High.

Saleem M et al.

Jacc. Case Reports, 2021

Apolipoprotein genetic variants and hereditary amyloidosis.

Jeraj N et al.

Current Opinion in Lipidology, 2021

Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.

Zanoni P et al.

Current Opinion in Lipidology, 2020

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › Other_APO_genes

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Mutation mapping of apolipoprotein A-I structure assisted with the putative cholesterol recognition regions.

Dergunov AD

Biochimica Et Biophysica Acta, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."