Table 4 Unique LPA KIV-2 mutations within the target regions (KIV-2 exons 1 and 2 ± 100 bp) in each population. KIV-2 mutations are divided by mutation type for UK Biobank individuals (n = 199,119). Since the signature-based approach was developed and benchmarked in individuals of European ancestry, summary data are here filtered for White (n = 186,607), South Asian (n = 3465), and Black (n = 3200) ancestry. The PSVs defining the KIV-2B were not considered as mutations. The location “splicing region” was defined as within the 25 bp upstream and downstream KIV-2 exons
All ancestries (n = 199,119) | White (n = 186,607) | South Asian (n = 3465) | Black (n = 3200) | |
|---|---|---|---|---|
KIV-2 mutations in target regions | 707 | 692 | 283 | 294 |
Missense mutations | 256 | 248 | 103 | 123 |
Nonsense mutations | 37 | 35 | 12 | 10 |
Splicing region mutations | 95 | 93 | 36 | 26 |
Splice-site mutations | 8 | 8 | 3 | 1 |