PMID: 21771976

Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal of lipid research
Holla, Øystein L ØL, Cameron, Jamie J, Tveten, Kristian K, Strøm, Thea Bismo TB, Berge, Knut Erik KE, Laerdahl, Jon K JK, Leren, Trond P TP
2011-10

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523163-T-G PCSK9 c.1156T>G p.S386A Missense 7/12 -
1-55524198-TG-GC PCSK9 c.1381_1382delTGinsGC p.W461A Missense 9/12 -
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.L455* Nonsense 9/12 -
1-55524259-A-C PCSK9 c.1442A>C p.E481A Missense 9/12 -
1-55527170-CA-GC PCSK9 c.1804_1805delCAinsGC p.H602A Missense 11/12 -
19-11224224-AG-GC LDLR c.1372_1373delAGinsGC p.R458A Missense 10/18 -
1-55529216-CG-GC PCSK9 c.2038_2039delCGinsGC p.R680A Missense 12/12 -
1-55525198-TT-GC PCSK9 c.1543_1544delTTinsGC p.F515A Missense 10/12 -
1-55524192-A-G PCSK9 c.1375A>G p.T459A Missense 9/12 -
1-55525306-CA-GC PCSK9 c.1651_1652delCAinsGC p.H551A Missense 10/12 -
1-55525264-CA-GC PCSK9 c.1609_1610delCAinsGC p.H537A Missense 10/12 -
1-55525324-CA-GC PCSK9 c.1669_1670delCAinsGC p.H557A Missense 10/12 -
1-55527086-CA-GC PCSK9 c.1720_1721delCAinsGC p.H574A Missense 11/12 -
1-55525312-CA-GC PCSK9 c.1657_1658delCAinsGC p.H553A Missense 10/12 -