Table 1.
Genetic variation at the human DISP1 locus
| Provisionally unique | Coding position | Suitable for testing | Comment |
|---|---|---|---|
| Yes (Hispanic Caucasian) | A19V | No | Not conserved or present in Disp |
| Yes (Hispanic Caucasian) | H159Y | Yes | N-terminal intracellular domain |
| Yes (Caucasian, USA) | L469S | Yes | N-terminal intracellular domain |
| Yes (Caucasian, Italy) | W475X | Yes | Termination between loops 1–2 |
| Yes (Hispanic Caucasian, Mexico) | Q674H | Yes | Intracellular between loops 6–7 |
| Yes (Hispanic Caucasian) | Y734X | Yes | Termination within transmembrane 7 |
| Yes (Caucasian, USA) | F816V | Yes | Loop 7–8 |
| Yes (Caucasian, USA) | Q928R | Yes | Loop 7–8 |
| Yes (Caucasian, USA) | V1079M | No | Methionine normally present in murine Disp |
| Yes (Hispanic Caucasian) | Del(ELEH)>D | No | Not conserved |
| Yes (Caucasian, USA) | P1255L | No | Not conserved or present in Disp |
| Yes (Hispanic Caucasian) | A1471P | No | Not conserved or present in Disp |
| No | P25P | No | Common SNP including controls |
| No | E103N | No | Rs2789975 |
| No | V514V | No | Common SNP including controls |
| No | K945K | No | Rs2609355 |
| No | A1247T | No | Rs9441940 |
| No | P1274P | No | Rs9441941 |
| No | V1261M | No | Common SNP including controls |
| No | A637A | No | Synonymous change |
| Yes | D847D | No | Synonymous change |
| No | S1163G | No | Glycine the normal position in murine Disp |
| Yes | A182A | No | Synonymous change |
| No | IVS2-3T>G | No | Common SNP |
| No | IVS4+84T>C | No | Common SNP |
| No | IVS5-14T> C | No | rs2609359 |