Table 11. Binding site SNPs in α-dystrobrevin.
Region | SNP ID | SNP Type | Variation | AA Position |
Syntrophin Domain (378–450, green) | rs192673085 | Synonymous | L | 378 |
rs141881401 | Missense | A/S | 383 | |
rs150679265 | Missense | N/D | 397 | |
TMP_ESP_18_32418744 | Missense | A/V | 403 | |
rs139872140 | Missense | H/Y | 406 | |
TMP_ESP_18_32418763 | Synonymous | I | 409 | |
TMP_ESP_18_32418764 | Missense | G/R | 410 | |
rs186573363 | Missense | Y/S | 412 | |
rs199867593 | Missense | R/W | 417 | |
COS122724 | Missense | R/W | 417 | |
TMP_ESP_18_32418800 | Missense | C/R | 422 | |
TMP_ESP_18_32428268 | Missense | E/G | 425 | |
rs144776465 | Synonymous | A | 441 | |
COSM221429 | Missense | A/T | 445 | |
COSM221430 | Missense | A/T | 445 | |
rs147541731 | Missense | S/F | 448 | |
rs202088347 | Synonymous | S | 450 | |
Dp-71 Domain (460–500, blue) | rs145061501 | Synonymous | I | 466 |
rs144880521 | Missense | D/N | 467 | |
rs149071180 | Synonymous | L | 495 |