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The 2 HMA Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthHMA RegionMutationInvolvement of Repeats in Mutations
1 P35670 Copper-transporting ATPase 2 146532 32 Missing: Does not affect copper-induced relocalization
37 37 F->A: Altered copper-induced relocalization
39 39 F->W,A: Altered copper-induced relocalization
39 39 F->Y: Does not affect copper-induced relocalization
40 40 D->A: Altered copper-induced relocalization
41 41 N->A: Altered copper-induced relocalization
42 42 V->A: Altered copper-induced relocalization
42 42 V->I: Does not affect copper-induced relocalization
43 43 G->A: Altered copper-induced relocalization
44 44 Y->F: Does not affect copper-induced relocalization
44 44 Y->W,A: Altered copper-induced relocalization
45 45 E->A: Altered copper-induced relocalization
653 653 S->F,D,E: Altered copper-induced relocalization
1027 1027 D->A: Loss of copper transport activity
1031 1031 T->S: Decreased copper transport activity with no effect on ATPase activity
1069 1069 H->A,C: Loss of ATPase activity
N
2 Q04656 Copper-transporting ATPase 1 15001487 1488 1487 1488 LL->AA: Loss of relocalization to the trans-Golgi
N