From: Crystal structures of the human Dysferlin inner DysF domain
Residue | Disease | Number of reports | References | Role of residue | Conservation score |
---|---|---|---|---|---|
Arg959Trp | LGMD2B & MM | 25 | In Stack 3 | 0.522 | |
Met968Leu | LGMD2B | 1 | [35] | In loop. Poorly defined in structure and surface exposed | 0.281 |
Trp992Arg | LGMD2B & MM | 2 | [36] | In Stack 1 | 1.000 |
Trp999Cys | LGMD2B & MM | 24 | In Stack 2 | 1.000 | |
Glu1009Lys | ? | 1 | [16] | Surface exposed in loop. Close to phosphate in crystal | 0.411 |
Gly1011Arg | DACM | 1 | [32] | Surface exposed in a loop | 0.773 |
Tyr1014Cys | LGMD2B & MM | 5 | Orientates Arg1038 in Stack 3. H bond OH to guanadinium | 1.000 | |
Arg1022Gln | LGMD2B | 7 | Surface exposed. Poor side chain density | 0.312 | |
Pro1029Leu | MM | 2 | [42] | Surface exposed | 0.062 |
Arg1038Gln | LGMD2B | 7 | In stack 3 | 1.000 | |
Arg1039Trp | MM | 1 | [16] | Opposite face stack | 0.923 |
Arg1039Leu | MM | 1 | [44] | Opposite face stack | 0.923 |
Arg1041Cys | MM | 2 | [31] | Surface exposed. H bond to E952 | 0.617 |
Arg1044Ser | DAMT | 2 | [44] | In Stack 2 | 1.000 |
Arg1046His | MM | 11 | In Stack 1 | 0.386 |