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The 3 MIR Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthMIR RegionMutationInvolvement of Repeats in Mutations
1 Q92736 Ryanodine receptor 2 49672808 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 "2758241 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 5038522 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