Table 9. Binding site SNPs in α-1 syntrophin.
Region | SNP ID | SNP Type | Variation | AA Position |
PDZ Domain (87–170, red) | rs75025585 | Missense | R/Q | 106 |
TMP_ESP_20_32026803 | Missense | I/F | 114 | |
TMP_ESP_20_32026797 | Missense | K/E | 116 | |
rs151113230 | Missense | A/T | 122 | |
rs201421292 | Missense | Q/H | 125 | |
rs199964677 | Missense | F/L | 130 | |
rs142978180 | Missense | S/A | 144 | |
rs141724500 | Missense | T/N | 147 | |
rs200241523 | Missense | V/I | 154 | |
rs200647905 | Synonymous | L | 164 | |
Dystrobrevin Domain (408–416, green) | rs142580715 | Synonymous | V | 410 |
SU Domain (449–505, blue) | rs116747979 | Synonymous | F | 450 |
rs148604302 | Missense | E/K | 451 | |
rs146134721 | Synonymous | D | 459 | |
TMP_ESP_20_31996554 | Missense | G/S | 460 | |
rs188835994 | Missense | L/R | 463 | |
rs201485963 | Synonymous | H | 480 | |
TMP_ESP_20_31996389 | Missense | S/L | 481 | |
TMP_ESP_20_31996346 | Synonymous | S | 495 | |
rs144006909 | Missense | S/L | 495 | |
rs144006909 | Stop gained | S/* | 495 | |
rs34901081 | Synonymous | A | 496 |