PMID: 26927322

Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

Clinical biochemistry
KN ArulJothi, RA Whitthall, M Futema, SE Humphries, M George, S Elangovan, DR Nair, A Devi
2016-06

12 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55521832-C-T PCSK9 c.966C>T p.Ala322Ala Synonymous 6/12 -
19-11221353-C-T LDLR c.966C>T p.Asn322Asn Synonymous 7/18 -
2-21252827-C-T APOB c.1413G>A p.Met471Ile Missense 11/29 -
19-11224251-AC-TA LDLR c.1399_1400delACinsTA p.Thr467Tyr Missense 10/18 -
19-11216284-GCGGGGCCAGGG-G LDLR c.694+8_694+18del11 - IntronicDeletion - 4/17
19-11227676-T-C LDLR c.1845+2T>C - IntronicSNV - 12/17
19-11218112-G-A LDLR c.862G>A p.Glu288Lys Missense 6/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55523204-C-T PCSK9 c.1180+17C>T - IntronicSNV - 7/11
1-241669345-C-T FH c.862G>A p.Gly288Ser Missense 6/10 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -