Table 2.
Properties of 10 SNPs in GLUT2 gene with observed heterozygote variants in subjects with MM.
| #base (NCBI.37) | SNP ID | Function | Protein Variant | Cdna Variant | Conservation Score PhastCons | Conservation Score GERP | Grantham Score |
|---|---|---|---|---|---|---|---|
| 3:170732599 | rs7356034 | Intron 2 | NA | c.109-79C>T | NA | −1.45 | NA |
| 3:170732426 | rs7637863¶ | missense | p.P68L | c.203C>T | 0.008 | 3.71 | 98 |
| 3:170732300 | rs5400¶§ | missense | p.T110I | c.329C>T | 0.981 | 6.08 | 89 |
| 3:170727739 | rs5402 | intron 4 | NA | c.496+8A>T | 0 | −5.81 | NA |
| 3:170724955 | rs5404§ | synonymous | p.T198T | c.594G>A | 0.003 | −11.5 | NA |
| 3:170723668 | rs2292621 | intron 6 | NA | c.775+64G>A | NA | 0.471 | NA |
| 3:170723664 | rs2292622 | intron 6 | NA | c.775+68T>C | NA | 0.42 | NA |
| 3:170723276 | rs5406§ | intron 6 | NA | c.776-15C>T | 0.093 | 2.59 | NA |
| 3:170716937 | rs76362149¶ | missense | p.A363S | c.1087G>T | 1 | 4.96 | 99 |
| 3:170715830 | rs5398§ | synonymous | p.F479F | c.1437C>T | 0.113 | −3.68 | NA |
§
NIEHS SNP Function Prediction FuncPred (http://snpinfo.niehs.nih.gov/snpinfo/snpfunc.htm) predicts that the SNP is located within a transcription factor binding site or linked to another SNPs located within a transcription binding site or splicing enhancer/silencer.
¶
NIEHS SNP Function Prediction FuncPred predicts missense change in a SNP is possibly/probably damaging. The degree of conservation for the common alleles are reported in Phastcons score for vertebrates, and/or GERP (Genomic Evolutionary Rate Profiling score), and/or Grantham score for change involve a codon.