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Table 3 List of pathogenic missense mutations in the inner dysF domain taken from the Leiden database[16]

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 [2834] 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 [3540] 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
  1. LGMD2B- Limb Girdle Muscular Dystrophy 2B. MM-Myoshi Myopathy, DAMT-Distal anterior Myopathy Tibial Onset, Conversation Score was calculated using alignment in Figure 1 and Scorecons program [47].