Table 3 Characteristics of BTLA gene single nucleotide polymorphisms
From: BTLA biology in cancer: from bench discoveries to clinical potentials
SNP | Location [GRCh38.p13] | Variation | Consequence |
|---|---|---|---|
rs2633580 | chr3:112500906 | C > G | 2KB Upstream Variant |
rs11921669 | chr3:112500581 | C > T | 2KB Upstream Variant |
rs2633582 | chr3:112500493 | A > C | 2KB Upstream Variant |
rs2705565 | chr3:112500489 | C > T | 2KB Upstream Variant |
rs1844089 | chr3:112498887 | G > A | Intron Variant |
rs2705535 | chr3:112490080 | C > T | Intron Variant - Potential role in splicing [115] |
rs9288953 | chr3:112484405 | C > T | Intron Variant - Predicted to activate six new splice sites in splicing enhancer motifs and break one splicing sites in silencer motifs [116] |
rs16859633 | chr3:112479488 | T > C; I(Ile) > V(Val) | Missense Variant Exon 2 |
rs2633562 | chr3:112477584 | T > C | Intron Variant |
rs16859629 | chr3:112471533 | T > C | Intron Variant |
rs2931761 | chr3:112471290 | G > T; R(Arg) > S(Ser) | Missense Variant Exon 3 |
rs76844316 | chr3:112469762 | T > G; N(Asn) > T(Thr) | Missense Variant Exon 4 - associated with decreased inhibitory activity of BTLA [117] |
rs9288952 | chr3:112466178 | C > T; P(Pro) > L(Leu) | Missense Variant Exon 5 |
rs2171513 | chr3:112466080 | A > G | 3’UTR Variant |
rs1982809 | chr3:112463893 | A > G | 3’UTR Variant - ↓ mRNA expression in T-cells of the CLL patients [118] |
rs2705511 | chr3:112460632 | A > C | Intragenic region between CD200 and BTLA genes [-97,820 bp||-3334 bp] |