Variant ID: 1-55525200-T-G

NM_174936.3(PCSK9):c.1545T>G;(p.Phe515Leu)

This variant was identified in 5 publications




Publications:


A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace
Publication Date: 2020-02-21

Variant appearance in text: N/A
PubMed Link: 31949048
Variant Present in the following documents:
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: N/A
PubMed Link: 23105118
Variant Present in the following documents:
View BVdb publication page



Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: N/A
PubMed Link: 17971861
Variant Present in the following documents:
View BVdb publication page



The self-inhibited structure of full-length PCSK9 at 1.9 A reveals structural homology with resistin within the C-terminal domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
EN Hampton, MW Knuth, J Li, JL Harris, SA Lesley, G Spraggon
Publication Date: 2007-09-11

Variant appearance in text: N/A
PubMed Link: 17804797
Variant Present in the following documents:
View BVdb publication page



A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: PCSK9: 1545T>G; F515L
PubMed Link: 16465619
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1545T>G p.Phe515Leu missense_variant 10/12 -
ENST00000490692.1 n.2227+880T>G - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*92T>G - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1545T>G p.Phe515Leu missense_variant 10/12 -
NR_110451.1 n.1152T>G - non_coding_transcript_exon_variant 8/10 -