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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

[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

  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].