S.NO | Uniprot ID | Protein Name | Sequence Length | MIR Region | Mutation | Involvement of Repeats in Mutations |
1 | Q92736 | Ryanodine receptor 2 | 4967 | 2808 2808 S->A: Abolishes phosphorylation by PKA 3946 3946 G->A: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation 3978 3978 M->I: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation 4108 4108 H->N: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation 4108 4108 H->Q: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation | N | |
2 | Q14643 | "Inositol 1,4,5-trisphosphate receptor type 1 " | 2758 | 241 241 R->Q: Abolishes interaction with AHCYL1 249 249 K->Q: Abolishes interaction with AHCYL1 265 265 R->Q: No effect on interaction with AHCYL1 267 267 T->A: No effect on interaction with AHCYL1 269 269 R->Q: Abolishes interaction with AHCYL1 504 504 R->Q: Abolishes interaction with AHCYL1 506 506 R->Q: Abolishes interaction with AHCYL1 508 508 K->A: Abolishes interaction with AHCYL1 511 511 R->A: Abolishes interaction with AHCYL1 567 567 Y->A: Abolishes interaction with AHCYL1 568 568 R->Q: Abolishes interaction with AHCYL1 569 569 K->A: Abolishes interaction with AHCYL1 | Y | |
3 | P21817 | Ryanodine receptor 1 | 5038 | 522 522 Y->C: Increases calcium-induced calcium release activity 2508 2508 R->K: Increases sensitivity to caffeine and 4-chloro-m-cresol 2508 2508 R->S: Increases sensitivity to caffeine and 4-chloro-m-cresol | N |