The UMD-TREAT_DMD mutations database
Structural domains and key residues

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




Structural domain Number of records
Dp427m unique N-Ter [1-11]70 (1 %)
Actin binding domain [12-240]933 (13 %)
CRD-hinge region #1 [253-327]119 (1.7 %)
CRD [328-336]4 (0.1 %)
CRD-repeat #1 [337-447]174 (2.4 %)
CRD-repeat #2 [448-556]118 (1.7 %)
CRD-repeat #3 [557-667]107 (1.5 %)
CRD-hinge region #2 [668-717]16 (0.2 %)
CRD-repeat #4 [718-828]268 (3.7 %)
CRD-repeat #5 [829-934]60 (0.8 %)
CRD-repeat #6 [935-1045]103 (1.4 %)
CRD-repeat #7 [1046-1154]53 (0.7 %)
CRD-repeat #8 [1155-1263]51 (0.7 %)
CRD-repeat #9 [1264-1367]39 (0.5 %)
CRD-repeat #10 [1368-1463]47 (0.7 %)
CRD-repeat #11 [1464-1568]52 (0.7 %)
CRD-repeat #12 [1569-1676]71 (1 %)
CRD-repeat #13 [1677-1778]46 (0.6 %)
CRD-repeat #14 [1779-1874]62 (0.9 %)
CRD-repeat #15 [1875-1973]48 (0.7 %)
CRD [1974-1991]46 (0.6 %)
CRD-repeat #16 [1992-2101]322 (4.5 %)
CRD-repeat #17 [2102-2208]1655 (23.1 %)
CRD-repeat #18 [2209-2318]574 (8 %)
CRD-repeat #19 [2319-2423]567 (7.9 %)
CRD-hinge region #3 [2424-2470]345 (4.8 %)
CRD-repeat #20 [2471-2577]336 (4.7 %)
CRD-repeat #21 [2578-2686]100 (1.4 %)
CRD-repeat #22 [2687-2802]73 (1 %)
CRD-repeat #23 [2803-2931]57 (0.8 %)
CRD-repeat #24 [2932-3040]93 (1.3 %)
CRD-hinge region #4 [3041-3112]93 (1.3 %)
Cystein-rich domain [3113-3299]74 (1 %)
Carboxy-terminal region [3300-3685]142 (2 %)

Key residues (HCD) Number of records
[-]1 (0 %)