Variant ID: 1-55523163-T-G

NM_174936.3(PCSK9):c.1156T>G;(p.Ser386Ala)

This variant was identified in 12 publications




Publications:


A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9.

Journal Of Visualized Experiments : Jove
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-08-28

Variant appearance in text: PCSK9: S386A
PMID: 30222160
View BVdb publication page



PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: S386A
PMID: 29748367
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Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: S386A
PMID: 29593095
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Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: S386A
PMID: 29259136
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Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports
L Wierød, J Cameron, TB Strøm, TP Leren
Publication Date: 2016-12

Variant appearance in text: PCSK9: S386A
PMID: 27896130
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Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein Science : A Publication Of The Protein Society
CW Garvie, CV Fraley, NH Elowe, EK Culyba, CT Lemke, BK Hubbard, VK Kaushik, DS Daniels
Publication Date: 2016-11

Variant appearance in text: PCSK9: S386A
PMID: 27534510
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The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal Of Biological Chemistry
JS Chorba, KM Shokat
Publication Date: 2014-10-17

Variant appearance in text: PCSK9: S386A
PMID: 25210046
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
Publication Date: 2012

Variant appearance in text: PCSK9: S386A
PMID: 24278757
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Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).

The Journal Of Biological Chemistry
V Sharotri, DM Collier, DR Olson, R Zhou, PM Snyder
Publication Date: 2012-06-01

Variant appearance in text: PCSK9: S386A
PMID: 22493497
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Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
Publication Date: 2011-10

Variant appearance in text: PCSK9: S386A
PMID: 21771976
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Plasma PCSK9 preferentially reduces liver LDL receptors in mice.

Journal Of Lipid Research
A Grefhorst, MC McNutt, TA Lagace, JD Horton
Publication Date: 2008-06

Variant appearance in text: PCSK9: S386A
PMID: 18354138
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Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity.

The Biochemical Journal
J Li, C Tumanut, JA Gavigan, WJ Huang, EN Hampton, R Tumanut, KF Suen, JW Trauger, G Spraggon, SA Lesley, G Liau, D Yowe, JL Harris
Publication Date: 2007-09-01

Variant appearance in text: PCSK9: S386A
PMID: 17608623
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1156T>G p.Ser386Ala missense_variant 7/12 -
ENST00000490692.1 n.1880T>G - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.556T>G p.Ser186Ala missense_variant 5/10 -
NM_174936.4 c.1156T>G p.Ser386Ala missense_variant 7/12 -
NR_110451.1 n.815T>G - non_coding_transcript_exon_variant 5/10 -