PMID: 24234650

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Human molecular genetics
AC Alves, A Etxebarria, AK Soutar, C Martin, M Bourbon
2014-04-01

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21233999-T-C APOB c.5741A>G p.Asn1914Ser Missense 26/29 -
2-21242613-G-A APOB c.2981C>T p.Pro994Leu Missense 19/29 -
2-21238413-C-G APOB c.3337G>C p.Asp1113His Missense 22/29 -
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
2-21233102-ATCA-A APOB c.6639_6641delTGA p.Asp2213delAsp InFrameDeletion 26/29 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
2-21238259-C-G APOB c.3491G>C p.Arg1164Thr Missense 22/29 -
2-21229068-G-A APOB c.10672C>T p.Arg3558Cys Missense 26/29 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
2-21225106-CC-AT APOB c.13187_13188delGGinsAT p.Trp4396Tyr Missense 29/29 -
2-21234050-C-T APOB c.5690G>A p.Arg1897His Missense 26/29 -
2-21234141-G-A APOB c.5599C>T p.Arg1867Trp Missense 26/29 -
2-21224853-C-T APOB c.13441G>A p.Ala4481Thr Missense 29/29 -
19-11224058-G-A LDLR c.1291G>A p.Ala431Thr Missense 9/18 -
2-21237422-T-C APOB c.3740A>G p.Tyr1247Cys Missense 24/29 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
2-21229905-T-C APOB c.9835A>G p.Ser3279Gly Missense 26/29 -
2-21229221-G-A APOB c.10519C>T p.Arg3507Trp Missense 26/29 -
2-21224815-GCTG-G APOB c.13480_13482delCAG p.Gln4494delGln InFrameDeletion 29/29 -
2-21231887-A-G APOB c.7853T>C p.Ile2618Thr Missense 26/29 -