PMID: 33515402

Patterns and tempo of PCSK9 pseudogenizations suggest an ancient divergence in mammalian cholesterol homeostasis mechanisms.

Genetica

van Asch, Barbara B, Teixeira da Costa, Luís Filipe LF

2021-02

8 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55529215-C-A	PCSK9	c.2037C>A	p.C679*	Nonsense	12/12	-
1-206141447-GCA-TGT	FAM72A	c.154_156delGCAinsTGT	p.A52C	Missense	2/4	-
1-55529213-TG-GC	PCSK9	c.2035_2036delTGinsGC	p.C679A	Missense	12/12	-
1-55529213-T-A	PCSK9	c.2035T>A	p.C679S	Missense	12/12	-
1-55529214-G-C	PCSK9	c.2036G>C	p.C679S	Missense	12/12	-
1-55527189-G-T	PCSK9	c.1823G>T	p.C608F	Missense	11/12	-
1-55529081-T-C	PCSK9	c.1903T>C	p.C635R	Missense	12/12	-
1-55527051-G-A	PCSK9	c.1685G>A	p.C562Y	Missense	11/12	-