PMID: 32595449

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers in neuroscience
EM O'Connell, FW Lohoff
2020

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55529828-C-T PCSK9 c.*571C>T - 3-UTRSNV 12/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55519015-G-A PCSK9 c.799+551G>A - IntronicSNV - 5/11
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11
1-151502020-T-A CGN c.2091T>A p.Cys697* Nonsense 11/21 -
1-55519015-G-T PCSK9 c.799+551G>T - IntronicSNV - 5/11
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -