TABLE 1.
The identified mutations in the TMIE gene
| Nucleotide change | Amino acid change | Exon/Intron | SNP | Possible effect on gene or protein | Domain | ClinVar accession Code | References |
|---|---|---|---|---|---|---|---|
| c.92A > G | p.Glu31Gly | EX1 | rs1057517839 | Decreased protein stability | Extracellular | VCV000372538.2 | 28 |
| c.IVS1‐2_98delAGCCCAGinsC | – | IN1 | rs876657371 | Splice disruption | Extracellular | VCV000003393.1 | 17 |
| c.125_126insCGCC | – | EX2 | rs876661301 | Frameshift | Extracellular | VCV000003389 | 17 |
| c.170G > A | p.Trp57Ter | EX2 | rs267607120 | Truncated protein | Transmembrane | VCV000003394.1 | 30 |
| c.211 + 3G > C | – | IN2 | rs397517865 | Splice disruption | Transmembrane | VCV000047957.2 | – |
| c.212‐2A > C | – | IN2 | – | Splice disruption | Transmembrane | – | 28 |
| c.241C > T | p.Arg81Cys | EX3 | rs28942096 | Decreased protein stability | Intracellular carboxy‐terminus | VCV000003390.1 | 17 |
| c.250C > T | p.Arg84Trp | EX3 | rs28942097 | Decreased protein stability | Intracellular carboxy‐terminus | VCV000003391.4 | 17 |
| c.251G > T | p.Arg84Leu | EX3 | rs397517866 | Decreased protein stability | Intracellular carboxy‐terminus | VCV000047958.2 | – |
| c.257G > A | p.Arg86Gln | EX3 | rs750584965 | Decreased protein stability | Intracellular carboxy‐terminus | – | 116 |
| c.274C > T | p.Arg92Trp | EX3 | rs28941781 | Decreased protein stability | Intracellular carboxy‐terminus | VCV000003392.2 | 17 |
| c.460G > T | p.Gly154Ter | EX4 | – | Made truncated protein | Intracellular carboxy‐terminus | – | 117 |