S.NO | Uniprot ID | Protein Name | Sequence Length | HMA Region | Mutation | Involvement of Repeats in Mutations |
1 | P35670 | Copper-transporting ATPase 2 | 1465 | 32 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 | 1500 | 1487 1488
1487 1488 LL->AA: Loss of relocalization to the trans-Golgi | N |