Variant ID: 11-116661530-G-A

NM_001166598.1(APOA5):c.415C>T;(p.Gln139*)

This variant was identified in 12 publications




Publications:


Candidate gene polymorphisms related to lipid metabolism in Asian Indians living in Durban, South Africa.

The Indian Journal Of Medical Research
T Maistry, M Gordon, B Sartorius, DP Naidoo
Publication Date: 2018-08

Variant appearance in text: APOA5: Q139X; rs121917821
PMID: 30381540
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Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.

Journal Of Biomedical Research
TM Forte, V Sharma, RO Ryan
Publication Date: 2016-03

Variant appearance in text: APOA5: Q139X
PMID: 26679785
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Apolipoprotein A5: Extracellular and Intracellular Roles in Triglyceride Metabolism.

Current Drug Targets
TM Forte, RO Ryan
Publication Date: 2015

Variant appearance in text: APOA5: Q139X
PMID: 26028042
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Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Plos One
M Di Filippo, C Marçais, S Charrière, O Marmontel, M Broyer, M Delay, M Merlin, A Nollace, R Valéro, M Lagarde, V Pruneta-Deloche, P Moulin, A Sassolas
Publication Date: 2014

Variant appearance in text: APOA5: Q139X
PMID: 24788417
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Gene transfer of apolipoprotein A-V improves the hypertriglyceridemic phenotype of apoa5 (-/-) mice.

Arteriosclerosis, Thrombosis, And Vascular Biology
V Sharma, JA Beckstead, JB Simonsen, L Nelbach, G Watson, TM Forte, RO Ryan
Publication Date: 2013-03

Variant appearance in text: APOA5: Q139X
PMID: 23329134
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Influence of apolipoprotein A-V on the metabolic fate of triacylglycerol.

Current Opinion In Lipidology
V Sharma, TM Forte, RO Ryan
Publication Date: 2013-04

Variant appearance in text: APOA-V: Q139X
PMID: 23241513
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APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

Bmc Medical Genetics
C Dussaillant, V Serrano, A Maiz, S Eyheramendy, LR Cataldo, M Chavez, SV Smalley, M Fuentes, A Rigotti, L Rubio, CF Lagos, JA Martinez, JL Santos
Publication Date: 2012-11-15

Variant appearance in text: APOA5: Q139X
PMID: 23151256
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: APOA5: Gln139Ter
PMID: 20876667
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Determinants of plasma apolipoprotein A-V and APOA5 gene transcripts in humans.

Journal Of Internal Medicine
P Hahne, F Krempler, FG Schaap, SM Soyal, H Höffinger, K Miller, H Oberkofler, W Strobl, W Patsch
Publication Date: 2008-11

Variant appearance in text: APOA5: Q139X
PMID: 18537870
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Intracellular lipid droplet targeting by apolipoprotein A-V requires the carboxyl-terminal segment.

Journal Of Lipid Research
X Shu, RO Ryan, TM Forte
Publication Date: 2008-08

Variant appearance in text: APOA5: Q139X
PMID: 18450648
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Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.

The Journal Of Clinical Investigation
C Marçais, B Verges, S Charrière, V Pruneta, M Merlin, S Billon, L Perrot, J Drai, A Sassolas, LA Pennacchio, J Fruchart-Najib, JC Fruchart, V Durlach, P Moulin
Publication Date: 2005-10

Variant appearance in text: APOA5: Q139X
PMID: 16200213
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Give me A5 for lipoprotein hydrolysis!

The Journal Of Clinical Investigation
M Merkel, J Heeren
Publication Date: 2005-10

Variant appearance in text: APOA5: Q139X
PMID: 16200205
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227665.4 c.415C>T p.Gln139* stop_gained 3/3 -
ENST00000433069.1 c.415C>T p.Gln139* stop_gained 4/4 -
ENST00000542499.1 c.415C>T p.Gln139* stop_gained 4/4 -
NM_001166598.2 c.415C>T p.Gln139* stop_gained 4/4 -
NM_001371904.1 c.415C>T p.Gln139* stop_gained 3/3 -
NM_052968.5 c.415C>T p.Gln139* stop_gained 4/4 -