The UMD-DYSF mutations database
Structural domains and key residues

This function displays the distribution of small rearrangements in structural domains and key residues of the DYSF protein. Only mutations/variations found in probands are taken into account.




Structural domain Number of records
C2 Domain A [2-85]51 (2.6 %)
C2 Domain B [222-302]60 (3.1 %)
Ferlin family domain FerI [303-374]60 (3.1 %)
C2 Domain C [381-479]83 (4.3 %)
Ferlin family domain FerA [694-759]33 (1.7 %)
Ferlin family domain FerB [786-861]72 (3.7 %)
Outer DysF domain, N-terminal [874-933]85 (4.4 %)
Inner DysF domain, N-terminal [946-1002]122 (6.3 %)
Inner DysF domain, C-terminal [1011-1049]81 (4.2 %)
Outer DysF domain, C-terminal [1068-1101]11 (0.6 %)
C2 Domain D [1154-1244]42 (2.2 %)
C2 Domain E [1335-1421]108 (5.6 %)
C2 Domain F [1580-1663]136 (7.1 %)
C2 domain G [1813-1926]146 (7.6 %)
Transmembrane domain [2045-2067]4 (0.2 %)

Key residues (HCD) Number of records
Calcium binding 16 [16-16]0 (0 %)
Calcium binding 21 [21-21]0 (0 %)
Calcium binding 71 [71-71]0 (0 %)
Calcium binding 73 [73-73]0 (0 %)
Calcium binding 288 [288-288]3 (0.2 %)
Calcium binding 411 [411-411]0 (0 %)
Calcium binding 417 [417-417]0 (0 %)
Calcium binding 465 [465-465]5 (0.3 %)
Calcium binding 467 [467-467]0 (0 %)
Calcium binding 473 [473-473]0 (0 %)
Calcium binding 1168 [1168-1168]1 (0.1 %)
Calcium binding 1174 [1174-1174]2 (0.1 %)
Calcium binding 1230 [1230-1230]0 (0 %)
Calcium binding 1232 [1232-1232]0 (0 %)
Calcium binding 1238 [1238-1238]0 (0 %)
Calcium binding 1348 [1348-1348]0 (0 %)
Calcium binding 1354 [1354-1354]2 (0.1 %)
Calcium binding 1407 [1407-1407]0 (0 %)
Calcium binding 1594 [1594-1594]0 (0 %)
Calcium binding 1600 [1600-1600]0 (0 %)
Calcium binding 1649 [1649-1649]0 (0 %)
Calcium binding 1651 [1651-1651]0 (0 %)
Calcium binding 1657 [1657-1657]1 (0.1 %)
Calcium binding 1849 [1849-1849]0 (0 %)
Calcium binding 1855 [1855-1855]2 (0.1 %)
Calcium binding 1912 [1912-1912]0 (0 %)
Calcium binding 1914 [1914-1914]0 (0 %)
Calcium binding 1920 [1920-1920]0 (0 %)