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The 1 ACT Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthACT RegionMutationInvolvement of Repeats in Mutations
1 Q8WTX7 Cytosolic arginine sensor for mTORC1 subunit 1 32990 90 Q->A: No effect on interaction with the GATOR2 complex
96 96 K->A: No effect on interaction with the GATOR2 complex
99 99 R->A: No effect on interaction with the GATOR2 complex
108 110 108 110 HHV->QNI: Loss of arginine-binding
111 111 S->A: Loss of arginine-binding
113 113 L->F: No effect on interaction with the GATOR2 complex
118 119 118 119 YQ->AA: No effect on arginine-binding
121 121 D->A: No effect on arginine-binding
126 126 R->A: Decreased arginine-binding
175 175 H->A: Decreased arginine-binding
202 202 I->E: No effect on arginine-binding
207 207 Y->S: No effect on arginine-binding
261 261 E->A: No effect on arginine-binding
264 264 R->A: No effect on interaction with the GATOR2 complex
276 276 D->A: Decreased arginine-binding
277 277 E->A: Decreased arginine-binding
278 278 C->A: Decreased arginine-binding
280 280 I->A: Loss of arginine-binding
292 292 D->A: No effect on arginine-binding
302 302 N->K: No effect on interaction with the GATOR2 complex
304 304 D->A: Loss of arginine-binding
Y