PMID: 35343078

Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical and translational medicine
Zhou, Yingchao Y, Xie, Qiang Q, Pan, Silin S, Wu, Jianfei J, Wang, Xiangyi X, Cao, Zhubing Z, Wang, Mengru M, Zha, Lingfeng L, Zhou, Mengchen M, Li, Qianqian Q, Wang, Qing Q, Cheng, Xiang X, Wu, Gang G, Tu, Xin X
2022-03

46 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224265-A-G LDLR c.1413A>G p.R471= Synonymous 10/18 -
19-11216264-G-T LDLR c.682G>T p.E228* Nonsense 4/18 -
2-21231524-G-A APOB c.8216C>T p.P2739L Missense 26/29 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
19-11200235-G-A LDLR c.11G>A p.W4* Nonsense 1/18 -
1-55523033-A-G PCSK9 c.1026A>G p.Q342= Synonymous 7/12 -
19-11213419-TG-T LDLR c.272delG p.G91Afs*115 Frameshift 3/18 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
2-21250914-G-A APOB c.1853C>T p.A618V Missense 14/29 -
19-11231101-C-A LDLR c.2043C>A p.C681* Nonsense 14/18 -
19-11210928-C-T LDLR c.97C>T p.Q33* Nonsense 2/18 -
19-11221435-C-T LDLR c.1048C>T p.R350* Nonsense 7/18 -
19-11233941-A-G LDLR c.2232A>G p.R744= Synonymous 15/18 -
19-11233994-TG-T LDLR c.2287delG p.E763Rfs*2 Frameshift 15/18 -
19-11221356-CG-C LDLR c.971delG p.G324Afs*46 Frameshift 7/18 -
1-55524197-A-G PCSK9 c.1380A>G p.V460= Synonymous 9/12 -
19-11215919-G-T LDLR c.337G>T p.E113* Nonsense 4/18 -
19-11230798-GA-G LDLR c.1878delA p.A627Pfs*38 Frameshift 13/18 -
1-55518166-G-A PCSK9 c.657+82G>A - IntronicSNV - 4/11
19-11240198-TCTTC-T LDLR c.2403_2406delCCTT p.L802Afs*126 Frameshift 17/18 -
19-11224109-C-T LDLR c.1342C>T p.Q448* Nonsense 9/18 -
19-11222199-GA-G LDLR c.1070delA p.E357Gfs*13 Frameshift 8/18 -
19-11215918-C-CG LDLR c.337_337dupG p.E113Gfs*17 Frameshift 4/18 -
19-11221454-T-C LDLR c.1060+7T>C - IntronicSNV - 7/17
1-55505732-A-G PCSK9 c.207+15A>G - IntronicSNV - 1/11
19-11218226-G-A LDLR c.940+36G>A - IntronicSNV - 6/17
19-11226944-C-T LDLR c.1705+56C>T - IntronicSNV - 11/17
19-11231108-GC-G LDLR c.2054delC p.P685Rfs*24 Frameshift 14/18 -
19-11218142-CA-C LDLR c.892delA p.M298Wfs*72 Frameshift 6/18 -
19-11238808-G-A LDLR c.2389+47G>A - IntronicSNV - 16/17
19-11233970-GGGCCACCCCT-G LDLR c.2264_2273delCCACCCCTGG p.A755Gfs*7 Frameshift 15/18 -
19-11221443-C-T LDLR c.1056C>T p.C352= Synonymous 7/18 -
19-11233873-C-T LDLR c.2164C>T p.Q722* Nonsense 15/18 -
19-11222305-C-A LDLR c.1176C>A p.C392* Nonsense 8/18 -
11-108043668-G-T NPAT c.2043C>A p.N681K Missense 13/18 -
1-55527219-C-T PCSK9 c.1853C>T p.P618L Missense 11/12 -
19-11218170-A-T LDLR c.920A>T p.D307V Missense 6/18 -
19-11221366-C-CA LDLR c.980dupA p.H327Qfs*5 Frameshift 7/18 -
19-11221429-GC-G LDLR c.1045delC p.Q349Sfs*21 Frameshift 7/18 -
19-11222305-CA-C LDLR c.1178delA p.K393Rfs*20 Frameshift 8/18 -
11-108043439-TG-T NPAT c.2271delC p.S758Vfs*14 Frameshift 13/18 -
8-133900468-A-AG TG c.2416_2417insG p.I806Sfs*21 Frameshift 10/48 -
19-11233980-CT-C LDLR c.2271delT p.L759Sfs*6 Frameshift 15/18 -
8-133900338-AG-A TG c.2286delG p.Q762Hfs*36 Frameshift 10/48 -
19-11233975-AC-A LDLR c.2270delC p.P757Lfs*8 Frameshift 15/18 -