PMID: 24319689

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

BioMed research international
de Almeida, Elaine Regina Delicato ER, Reiche, Edna Maria Vissoci EM, Kallaur, Ana Paula AP, Flauzino, Tamires T, Watanabe, Maria Angelica Ehara MA
2013

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-19819077-T-A LPL c.1322+483T>A - IntronicSNV - 8/9
8-19819077-T-G LPL c.1322+483T>G - IntronicSNV - 8/9
19-11230881-T-C LDLR c.1959T>C p.V653= Synonymous 13/18 -
2-21232195-G-A APOB c.7545C>T p.T2515= Synonymous 26/29 -
2-21225753-C-A APOB c.12541G>T p.E4181* Nonsense 29/29 -
2-21225753-C-T APOB c.12541G>A p.E4181K Missense 29/29 -
2-21231524-G-A APOB c.8216C>T p.P2739L Missense 26/29 -
2-21231524-G-T APOB c.8216C>A p.P2739Q Missense 26/29 -
8-19805708-G-A LPL c.106G>A p.D36N Missense 2/10 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
8-19813529-A-G LPL c.953A>G p.N318S Missense 6/10 -
19-11227602-C-T LDLR c.1773C>T p.N591= Synonymous 12/18 -
8-19815189-C-T LPL c.1019-1582C>T - IntronicSNV - 6/9
19-11224107-CC-AA LDLR c.1340_1341delCCinsAA p.S447* Nonsense 9/18 -
8-19805708-G-C LPL c.106G>C p.D36H Missense 2/10 -
11-117532543-A-G DSCAML1 c.511+114963T>C - intron_variant - 3/32