Variant ID: 1-55505604-G-A

NM_174936.3(PCSK9):c.94G>A;(p.Glu32Lys)

This variant was identified in 15 publications




Publications:


Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: rs564427867
PMID: 32120369
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Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.

Bmj Open
A Nomura, H Tada, H Okada, A Nohara, H Ishikawa, K Yoshimura, MA Kawashiri
Publication Date: 2018-12-28

Variant appearance in text: PCSK9: Glu32Lys
PMID: 30593551
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Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine
ML Chan, CL Cheung, AC Lee, CY Yeung, CW Siu, JY Leung, HK Pang, KC Tan
Publication Date: 2019-02

Variant appearance in text: PCSK9: 94G>A
PMID: 30592178
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Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal Medicine (Tokyo, Japan)
R Shirahama, T Ono, S Nagamatsu, D Sueta, S Takashio, T Chitose, K Fujisue, K Sakamoto, E Yamamoto, Y Izumiya, K Kaikita, S Hokimoto, M Hori, M Harada-Shiba, I Kajiwara, H Ogawa, K Tsujita
Publication Date: 2018

Variant appearance in text: PCSK9: E32K
PMID: 30555118
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Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.

Scientific Reports
T Tajima, H Morita, K Ito, T Yamazaki, M Kubo, I Komuro, Y Momozawa
Publication Date: 2018-05-25

Variant appearance in text: PCSK9: E32K
PMID: 29802317
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Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu
Publication Date: 2018-05

Variant appearance in text: PCSK9: E32K
PMID: 29724976
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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: E32K
PMID: 29259136
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PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology
E Kaya, M Kayıkçıoğlu, A Tetik Vardarlı, Z Eroğlu, S Payzın, L Can
Publication Date: 2017-10

Variant appearance in text: PCSK9: E32K
PMID: 28777095
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Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.

Journal Of Atherosclerosis And Thrombosis
H Mabuchi
Publication Date: 2017-03-01

Variant appearance in text: PCSK9: E32K
PMID: 28179607
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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: E32K
PMID: 27896130
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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: PCSK9: Glu32Lys
PMID: 26374825
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Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: E32K
PMID: 26195630
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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
Publication Date: 2015

Variant appearance in text: PCSK9: 94G>A; E32K
PMID: 25962062
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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: E32K
PMID: 20937814
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.94G>A p.Glu32Lys missense_variant 1/12 -
ENST00000452118.2 c.94G>A p.Glu32Lys missense_variant 1/6 -
NM_174936.4 c.94G>A p.Glu32Lys missense_variant 1/12 -