Variant ID: 1-55518071-G-A


This variant was identified in 7 publications


Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications
MT Oetjens, MA Kelly, AC Sturm, CL Martin, DH Ledbetter
Publication Date: 2019-10-25

Variant appearance in text: PCSK9: Arg215His
PMID: 31653860
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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: R215H
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: R215H
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: Arg215His
PMID: 26374825
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Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry
MT Lipari, W Li, P Moran, M Kong-Beltran, T Sai, J Lai, SJ Lin, G Kolumam, J Zavala-Solorio, A Izrael-Tomasevic, D Arnott, J Wang, AS Peterson, D Kirchhofer
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R215H
PMID: 23135270
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: R215H
PMID: 21862702
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In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal Of Biological Chemistry
R Essalmani, D Susan-Resiga, A Chamberland, M Abifadel, JW Creemers, C Boileau, NG Seidah, A Prat
Publication Date: 2011-02-11

Variant appearance in text: PCSK9: R215H
PMID: 21147780
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.644G>A p.Arg215His missense_variant 4/12 -
ENST00000452118.2 c.*288G>A - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1465G>A - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.44G>A p.Arg15His missense_variant 2/10 -
NM_174936.4 c.644G>A p.Arg215His missense_variant 4/12 -
NR_110451.1 n.303G>A - non_coding_transcript_exon_variant 2/10 -