PMID: 21862702

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal of lipid research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
2011-11

129 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-44578812-G-A NPC1L1 c.1184C>T p.Ala395Val Missense 2/20 -
7-44553238-A-G NPC1L1 c.3888T>C p.Val1296Val Synonymous 20/20 -
7-44578747-G-A NPC1L1 c.1249C>T p.Arg417Trp Missense 2/20 -
7-44579601-T-C NPC1L1 c.395A>G p.Asn132Ser Missense 2/20 -
2-21244000-G-T APOB c.2817-1223C>A - IntronicSNV - 18/28
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11224024-C-A LDLR c.1257C>A p.Tyr419* Nonsense 9/18 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
7-44580876-G-T NPC1L1 c.1-18C>A - 5-UTRSNV 1/20 -
10-113910721-A-G GPAM c.*2587T>C - 3-UTRSNV 22/22 -
7-44580876-G-A NPC1L1 c.1-18C>T - 5-UTRSNV 1/20 -
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
1-55509598-CGCC-C PCSK9 c.290_292delGCC p.Arg97delArg InFrameDeletion 2/12 -
7-44575563-G-C NPC1L1 c.1859C>G p.Ser620Cys Missense 5/20 -
1-63063622-G-T ANGPTL3 c.385G>T p.Glu129* Nonsense 1/7 -
8-21985139-G-C HR c.816C>G p.Asp272Glu Missense 3/19 -
1-25870254-G-A LDLRAP1 c.65G>A p.Trp22* Nonsense 1/9 -
2-21236030-A-G APOB c.4216+2T>C - IntronicSNV - 25/28
6-16143405-G-A MYLIP c.619G>A p.Glu207Lys Missense 4/7 -
7-44579135-G-C NPC1L1 c.861C>G p.Leu287Leu Synonymous 2/20 -
1-55529211-G-A PCSK9 c.2033G>A p.Cys678Tyr Missense 12/12 -
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
12-57595592-CGC-TGG LRP1 c.10498_10500delCGCinsTGG p.Arg3500Trp Missense 67/89 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
5-133948401-T-C SAR1B c.224A>G p.Asp75Gly Missense 4/7 -
2-21233500-A-T APOB c.6240T>A p.Tyr2080* Nonsense 26/29 -
2-21228827-C-T APOB c.10913G>A p.Arg3638Gln Missense 26/29 -
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
7-44579180-G-T NPC1L1 c.816C>A p.Leu272Leu Synonymous 2/20 -
2-44099233-G-A ABCG8 c.1083G>A p.Trp361* Nonsense 7/13 -
19-11223983-C-A LDLR c.1216C>A p.Arg406Arg Synonymous 9/18 -
1-55514956-G-A PCSK9 c.523+2637G>A - IntronicSNV - 3/11
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
1-109792897-T-G CELSR2 c.196T>G p.Trp66Gly Missense 1/34 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11231101-C-A LDLR c.2043C>A p.Cys681* Nonsense 14/18 -
2-44051210-C-T ABCG5 c.1166G>A p.Arg389His Missense 9/13 -
19-11231198-G-C LDLR c.2140G>C p.Glu714Gln Missense 14/18 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
18-21124353-C-A NPC1 c.2085G>T p.Leu695Leu Synonymous 13/25 -
18-21124353-C-G NPC1 c.2085G>C p.Leu695Leu Synonymous 13/25 -
18-21124353-C-T NPC1 c.2085G>A p.Leu695Leu Synonymous 13/25 -
1-241682932-C-G FH c.91G>C p.Ala31Pro Missense 1/10 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
8-133885446-T-A TG c.618T>A p.Asp206Glu Missense 5/48 -
8-133885446-T-G TG c.618T>G p.Asp206Glu Missense 5/48 -
1-25870255-G-A LDLRAP1 c.66G>A p.Trp22* Nonsense 1/9 -
19-11238761-G-T LDLR c.2389G>T p.Val797Leu Missense 16/18 -
2-44073656-T-C ABCG8 c.322+206T>C - IntronicSNV - 3/12
7-44574135-G-A NPC1L1 c.2077C>T p.Arg693Cys Missense 6/20 -
1-55509552-CT-TA PCSK9 c.244_245delCTinsTA p.Leu82* Nonsense 2/12 -
2-21225834-C-T APOB c.12460G>A p.Glu4154Lys Missense 29/29 -
19-11224288-T-C LDLR c.1436T>C p.Leu479Pro Missense 10/18 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
4-100532402-G-A MTTP c.1867+5G>A - IntronicSNV - 14/18
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-241669382-TCC-AGC FH c.823_825delGGAinsAGC p.Gly275Ser Missense 6/10 -
7-44578696-C-T NPC1L1 c.1300G>A p.Gly434Arg Missense 2/20 -
2-44050051-C-G ABCG5 c.1348G>C p.Asp450His Missense 10/13 -
2-44065951-T-C ABCG5 c.1-133A>G - 5-UTRSNV 1/13 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
2-21249735-CA-C APOB c.2169delT p.Asn723Lysfs*12 Frameshift 15/29 -
1-63063287-CC-AA ANGPTL3 c.50_51delCCinsAA p.Ser17* Nonsense 1/7 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
4-110864500-AT-GA EGF c.418_419delATinsGA p.Ile140Asp Missense 3/23 -
4-100512506-C-CC MTTP c.616dupC - SpliceDonorInsertion 6/19 -
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
19-11224024-C-G LDLR c.1257C>G p.Tyr419* Nonsense 9/18 -
1-55523077-G-A PCSK9 c.1070G>A p.Arg357His Missense 7/12 -
2-21234396-G-A APOB c.5344C>T p.Gln1782* Nonsense 26/29 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
5-133942700-A-T SAR1B c.537T>A p.Ser179Arg Missense 7/7 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
4-110864416-T-C EGF c.334T>C p.Cys112Arg Missense 3/23 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
4-99997614-CCG-AGC ADH5 c.652_654delCGGinsAGC p.Arg218Ser Missense 6/9 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
1-241667478-GAG-ATG FH c.970_972delCTCinsATG p.Leu324Met Missense 7/10 -
1-63050598-T-G DOCK7 c.1800+1580A>C - IntronicSNV - 15/48
19-11233851-G-A LDLR c.2142G>A p.Glu714Glu Synonymous 15/18 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
2-21229986-T-TT APOB c.9754dupA p.Thr3252Asnfs*8 Frameshift 26/29 -
1-211152151-C-G KCNH1 c.951+40055G>C - IntronicSNV - 6/10
18-21124355-G-A NPC1 c.2083C>T p.Leu695Leu Synonymous 13/25 -
2-21260829-C-A APOB c.537+1G>T - IntronicSNV - 5/28
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
2-21255263-G-A APOB c.1315C>T p.Arg439* Nonsense 10/29 -
2-21229277-GA-GG APOB c.10462_10463delTCinsGG p.Ser3488Gly Missense 26/29 -
1-220970593-T-C MARC1 c.612+446T>C - IntronicSNV - 3/6
1-220970593-T-G MARC1 c.612+446T>G - IntronicSNV - 3/6
7-44561837-G-A NPC1L1 c.2642C>T p.Ser881Leu Missense 11/20 -
1-63090966-TCG-TGG DOCK7 c.1387_1389delCGAinsTGG p.Arg463Trp Missense 12/49 -
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
12-121622484-G-C P2RX7 c.1667G>C p.Trp556Ser Missense 13/13 -
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
5-133959678-C-T SAR1B c.32G>A p.Gly11Asp Missense 2/7 -
1-55526685-G-A PCSK9 c.1682-363G>A - IntronicSNV - 10/11
19-11216203-C-T LDLR c.621C>T p.Gly207Gly Synonymous 4/18 -
7-44579668-G-A NPC1L1 c.328C>T p.Leu110Phe Missense 2/20 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
19-11227642-C-T LDLR c.1813C>T p.Leu605Leu Synonymous 12/18 -
1-55505712-CG-C PCSK9 c.202delG p.Ala68Profs*15 Frameshift 1/12 -
5-74638413-A-C HMGCR c.1-18A>C - 5-UTRSNV 2/20 -
7-44575482-A-T NPC1L1 c.1940T>A p.Ile647Asn Missense 5/20 -
19-11216140-T-C LDLR c.558T>C p.Gly186Gly Synonymous 4/18 -
19-11216140-T-A LDLR c.558T>A p.Gly186Gly Synonymous 4/18 -
4-100518237-G-A MTTP c.923G>A p.Trp308* Nonsense 9/19 -
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
2-21252772-G-A APOB c.1468C>T p.Arg490Trp Missense 11/29 -
7-44578500-G-A NPC1L1 c.1496C>T p.Thr499Met Missense 2/20 -
12-57537569-A-G LRP1 c.436A>G p.Lys146Glu Missense 4/89 -
2-21237421-A-T APOB c.3741T>A p.Tyr1247* Nonsense 24/29 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -
19-11216140-T-G LDLR c.558T>G p.Gly186Gly Synonymous 4/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
12-57595593-GC-AA LRP1 c.10499_10500delGCinsAA p.Arg3500Gln Missense 67/89 -