PMID: 29036232

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

PloS one
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
2017

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
1-55505520-G-A PCSK9 c.10G>A p.Val4Ile Missense 1/12 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
2-21235475-T-G APOB c.4265A>C p.Tyr1422Ser Missense 26/29 -
2-21235475-T-A APOB c.4265A>T p.Tyr1422Phe Missense 26/29 -
2-21235475-T-C APOB c.4265A>G p.Tyr1422Cys Missense 26/29 -
2-21232803-T-A APOB c.6937A>T p.Ile2313Phe Missense 26/29 -
2-21232803-T-C APOB c.6937A>G p.Ile2313Val Missense 26/29 -
2-21247843-G-T APOB c.2398C>A p.Leu800Met Missense 16/29 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
2-21228620-G-A APOB c.11120C>T p.Ala3707Val Missense 26/29 -
2-21252534-G-A APOB c.1594C>T p.Arg532Trp Missense 12/29 -
2-21231387-T-G APOB c.8353A>C p.Asn2785His Missense 26/29 -
1-55524312-C-T PCSK9 c.1495C>T p.Arg499Cys Missense 9/12 -
2-21255236-C-T APOB c.1342G>A p.Ala448Thr Missense 10/29 -
2-21266783-A-G APOB c.35T>C p.Leu12Pro Missense 1/29 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
2-21260084-G-A APOB c.581C>T p.Thr194Met Missense 6/29 -
2-21227212-C-T APOB c.12016G>A p.Val4006Ile Missense 28/29 -
1-55529226-A-AA PCSK9 c.2048_2048dupA p.His683Glnfs*28 Frameshift 12/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -