PMID: 24319689

The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

BioMed research international
ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe
2013

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
8-19819077-T-G LPL c.1322+483T>G - IntronicSNV - 8/9
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
8-19815189-C-T LPL c.1019-1582C>T - IntronicSNV - 6/9
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
8-19819077-T-A LPL c.1322+483T>A - IntronicSNV - 8/9
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
8-19805708-G-C LPL c.106G>C p.Asp36His Missense 2/10 -
8-19805708-G-A LPL c.106G>A p.Asp36Asn Missense 2/10 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
8-133883652-ACA-TGT TG c.334_336delACAinsTGT p.Thr112Cys Missense 4/48 -
8-133883607-C-T TG c.289C>T p.Gln97* Nonsense 4/48 -
19-11224107-CC-AA LDLR c.1340_1341delCCinsAA p.Ser447* Nonsense 9/18 -
11-117532543-A-G DSCAML1 c.511+114963T>C - intron_variant - 3/32