PMID: 33515402

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

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

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 -