PMID: 36470918

Linking single nucleotide polymorphisms to signaling blueprints in abdominal aortic aneurysms.

Scientific reports
Lim, Chrysania C, Pratama, Muhammad Yogi MY, Rivera, Cristobal C, Silvestro, Michele M, Tsao, Philip S PS, Maegdefessel, Lars L, Gallagher, Katherine A KA, Maldonado, Thomas T, Ramkhelawon, Bhama B
2022-12-05

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
21-39819830-C-T ERG c.19-2286G>A - IntronicSNV - 1/9
12-57534470-G-A LRP1 c.191-687G>A - IntronicSNV - 2/88
12-57534470-G-C LRP1 c.191-687G>C - IntronicSNV - 2/88
21-39819830-C-A ERG c.19-2286G>T - IntronicSNV - 1/9
2-20878820-T-A GDF7 c.*7635T>A - IntergenicSNV 2/2 -
2-20878820-T-C GDF7 c.*7635T>C - IntergenicSNV 2/2 -
7-150696111-T-A NOS3 c.894T>A p.D298E Missense 8/27 -
7-150696111-T-G NOS3 c.894T>G p.D298E Missense 8/27 -
3-52256697-C-A TLR9 c.1635G>T p.P545= Synonymous 2/2 -
3-52256697-C-G TLR9 c.1635G>C p.P545= Synonymous 2/2 -
3-52256697-C-T TLR9 c.1635G>A p.P545= Synonymous 2/2 -
9-107620867-C-T ABCA1 c.656G>A p.R219K Missense 7/50 -
7-73470714-G-A ELN c.1264G>A p.G422S Missense 20/33 -
7-73470714-G-C ELN c.1264G>C p.G422R Missense 20/33 -
3-148459395-C-T AGTR1 c.573C>T p.L191= Synonymous 3/3 -
1-55505647-G-A PCSK9 c.137G>A p.R46H Missense 1/12 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
4-187004217-C-T TLR3 c.1377C>T p.F459= Synonymous 4/5 -
9-101883808-A-G TGFBR1 c.98-7329A>G - IntronicSNV - 1/8
4-187004217-C-A TLR3 c.1377C>A p.F459L Missense 4/5 -
19-51323473-C-G KLK1 c.433G>C p.E145Q Missense 3/5 -
9-101883808-A-T TGFBR1 c.98-7329A>T - IntronicSNV - 1/8