Table 3.
List of pathogenic missense mutations in the inner dysF domain taken from the Leiden database[16]
| Residue | Disease | Number of reports | References | Role of residue | Conservation score |
|---|---|---|---|---|---|
|
Arg959Trp |
LGMD2B & MM |
25 |
[28-34] |
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 |
[35-40] |
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 |
[37,41] |
Orientates Arg1038 in Stack 3. H bond OH to guanadinium |
1.000 |
|
Arg1022Gln |
LGMD2B |
7 |
[28,37] |
Surface exposed. Poor side chain density |
0.312 |
|
Pro1029Leu |
MM |
2 |
[42] |
Surface exposed |
0.062 |
|
Arg1038Gln |
LGMD2B |
7 |
[28,29,42,43] |
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 | [42,45,46] | In Stack 1 | 0.386 |