PMID: 32369491

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

PLoS genetics
Tanigawa, Yosuke Y, Wainberg, Michael M, Karjalainen, Juha J, Kiiskinen, Tuomo T, Venkataraman, Guhan G, Lemmelä, Susanna S, Turunen, Joni A JA, Graham, Robert R RR, Havulinna, Aki S AS, Perola, Markus M, Palotie, Aarno A, , , Daly, Mark J MJ, Rivas, Manuel A MA
2020-05

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-11253684-G-A MTOR c.4253+5631C>T - IntronicSNV - 28/57
1-171605478-G-A MYOC c.1102C>T p.Q368* Nonsense 3/3 -
1-11253684-G-T MTOR c.4253+5631C>A - IntronicSNV - 28/57
1-11252369-G-A ANGPTL7 c.419G>A p.R140H Missense 2/5 -
1-11252357-A-G ANGPTL7 c.407A>G p.Q136R Missense 2/5 -
1-11253817-C-T ANGPTL7 c.658C>T p.R220C Missense 3/5 -
1-11253688-C-T ANGPTL7 c.529C>T p.R177* Nonsense 3/5 -
1-171621227-C-A MYOC c.525G>T p.Q175H Missense 1/3 -
1-171621227-C-G MYOC c.525G>C p.Q175H Missense 1/3 -
1-55505598-GCG-TTT PCSK9 c.88_90delGCGinsTTT p.A30F Missense 1/12 -