PMID: 21771976

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

Journal of lipid research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
2011-10

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524192-A-G PCSK9 c.1375A>G p.Thr459Ala Missense 9/12 -
1-55529216-CG-GC PCSK9 c.2038_2039delCGinsGC p.Arg680Ala Missense 12/12 -
1-55525198-TT-GC PCSK9 c.1543_1544delTTinsGC p.Phe515Ala Missense 10/12 -
1-55525264-CA-GC PCSK9 c.1609_1610delCAinsGC p.His537Ala Missense 10/12 -
1-55524198-TG-GC PCSK9 c.1381_1382delTGinsGC p.Trp461Ala Missense 9/12 -
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.Leu455* Nonsense 9/12 -
1-55525312-CA-GC PCSK9 c.1657_1658delCAinsGC p.His553Ala Missense 10/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55525306-CA-GC PCSK9 c.1651_1652delCAinsGC p.His551Ala Missense 10/12 -
19-11224224-AG-GC LDLR c.1372_1373delAGinsGC p.Arg458Ala Missense 10/18 -
1-55525324-CA-GC PCSK9 c.1669_1670delCAinsGC p.His557Ala Missense 10/12 -
1-55524259-A-C PCSK9 c.1442A>C p.Glu481Ala Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55527086-CA-GC PCSK9 c.1720_1721delCAinsGC p.His574Ala Missense 11/12 -
1-55527170-CA-GC PCSK9 c.1804_1805delCAinsGC p.His602Ala Missense 11/12 -