PMID: 29386597

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific reports
S Elbitar, D Susan-Resiga, Y Ghaleb, P El Khoury, G Peloso, N Stitziel, JP Rab├Ęs, V Carreau, J Hamelin, A Ben-Djoudi-Ouadda, E Bruckert, C Boileau, NG Seidah, M Varret, M Abifadel
2018-01-31

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21265321-C-T APOB c.149G>A p.Arg50Gln Missense 3/29 -
2-21265322-G-A APOB c.148C>T p.Arg50Trp Missense 3/29 -
2-21229558-C-G APOB c.10182G>C p.Lys3394Asn Missense 26/29 -
2-21229558-C-A APOB c.10182G>T p.Lys3394Asn Missense 26/29 -
2-21225106-CC-AT APOB c.13187_13188delGGinsAT p.Trp4396Tyr Missense 29/29 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11223997-G-T LDLR c.1230G>T p.Arg410Ser Missense 9/18 -
2-21230565-G-A APOB c.9175C>T p.Arg3059Cys Missense 26/29 -
2-21224815-GCTG-G APOB c.13480_13482delCAG p.Gln4494delGln InFrameDeletion 29/29 -
2-21229221-G-A APOB c.10519C>T p.Arg3507Trp Missense 26/29 -
2-21238259-C-G APOB c.3491G>C p.Arg1164Thr Missense 22/29 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
2-21229554-C-T APOB c.10186G>A p.Ala3396Thr Missense 26/29 -
1-55509594-C-T PCSK9 c.286C>T p.Arg96Cys Missense 2/12 -