Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional …

We investigated the isolated and combined effect of PNR10, PNR11, and the frequent splice site variant KIV-2 4925G>A on Lp (a) concentrations in the Cooperative Health Research in the …

KIV-2 R21X is a low frequency nonsense SNP in KIV-2 (MAF≈2%) [63,96]. In a study in ≈11,000 individuals, we found for this variant ≈12 mg/dL lower Lp(a) concentrations and a preferential …

Jun 6, 2017 · We performed a large scale mutation analysis in the KIV-2 using an extreme phenotype approach. We compiled an discovery set of 123 samples showing discordance …

Oct 24, 2024 · In this study, we present the DRAGEN KIV-2 CN caller, which utilizes short reads. Data across 166 WGS show that the caller has high accuracy, compared to optical mapping …

Aug 3, 2021 · Functional variants in the previously inaccessible LPA KIV-2 region cooperate in determining Lp(a) variance and CAD risk. Even a moderate but lifelong genetic Lp(a) reduction …

The KIV-2 domain (red) varies in number from 1 to >40 copies, thereby forming the KIV-2 CNV. Each KIV-2 repeat is approximately 5.5 kb long, composed of the first exon (160 bp), a long …

Jun 14, 2017 · Since up to 70% of the LPA coding sequence are located in a difficult to access hypervariable copy number variation named KIV-2, we hypothesized that it may contain novel …

Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional …

Aug 21, 2020 · The LPA KIV-2 R21X variant is a nonsense mutation located in the KIV-2 region and results in a truncated protein, which is degraded quickly . It is thus likely to causally …