S.NO | Uniprot ID | Protein Name | Sequence Length | PH Region | Mutation | Involvement of Repeats in Mutations |
1 | Q8N556 | Actin filament-associated protein 1 | 730 | 71 71 P->A: Decreased tyrosine phosphorylation 77 77 P->A: No effect on tyrosine phosphorylation 93 93 Y->F: Reduces phosphorylation and phosphorylation of SRC at Y-416 when associated with F-94 F-125 F-451 and F-453 94 94 Y->F: Reduces phosphorylation and phosphorylation of SRC at Y-416 when associated with F-93 F-125 F-451 and F-453 125 125 Y->F: Reduces phosphorylation and phosphorylation of SRC at Y-416 when associated with F-93 F-94 F-451 and F-453 451 451 Y->F: Reduces phosphorylation and phosphorylation of SRC at Y-416 when associated with F-93 F-94 F-125 and F-453 453 453 Y->F: Reduces phosphorylation and phosphorylation of SRC at Y-416 when associated with F-93 F-94 F-125 and F-451 | N | |
2 | Q8N4X5 | Actin filament-associated protein 1-like 2 | 818 | 4 4 Y->F: Reduced interaction with SRC | N | |
3 | O14827 | Ras-specific guanine nucleotide-releasing factor 2 | 1237 | 737 737 S->A: Loss of phosphorylation by CDK5 | N | |
4 | O60229 | Kalirin | 2985 | 2712 2712 K->A: Loss of autophosphorylation | N | |
5 | Q8WWN8 | "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 " | 1544 | 307 308
307 308 RR->AA: Loss of PtdIns(3,4,5)P3 binding | Y | |
6 | Q9Y4G2 | Pleckstrin homology domain-containing family M member 1 | 1056 | 720 722
720 722 Missing: Disrupts interaction with RAB7A 729 729 E->A: Disrupts interaction with RAB7A 769 769 R->A: Disrupts interaction with RAB7A 1021 1021 C->G: Disrupts interaction with Rab7 and no localization to endososmal membranes when associated with G-1024, L-1029 and G-1032 1024 1024 C->G: Disrupts interaction with Rab7 and no localization to endososmal membranes when associated with G-1021, L-1029 and G-1032 1029 1029 H->L: Disrupts interaction with Rab7 and no localization to endososmal membranes when associated with G-1021, G-1024 and G-1032 1032 1032 C->G: Disrupts interaction with Rab7and no localization to endososmal membranes when associated with G-1021, G-1024 and L-1029 | Y | |
7 | Q13009 | T-lymphoma invasion and metastasis-inducing protein 1 | 1591 | 879 879 K->E: Strongly reduces affinity for SDC1 912 912 K->E: Strongly reduces affinity for SDC1 | N | |
8 | Q9HD67 | Unconventional myosin-X | 2058 | 795 795 F->A: Abolishes interaction with CALM3 893 893 L->Q: Abolishes dimerization 904 904 K->A: Abolishes dimerization 1647 1647 K->D: Abolishes interaction with tubulin when associated with D-1650 1650 1650 K->D: Abolishes interaction with tubulin when associated with D-1647 1718 1719 1718 1719 SH->AA: Almost abolishes interaction with DCC 2002 2002 F->K: Abolishes interaction with DCC | N | |
9 | O75962 | Triple functional domain protein | 3097 | 1299 1299 E->A: 50% decrease in nucleotide exchange activity 1303 1303 T->A: 40% decrease in nucleotide exchange activity 1389 1389 N->A: No change in nucleotide exchange activity 1426 1426 V->A: 90% decrease in nucleotide exchange activity 1427 1427 Q->A: 80% decrease in nucleotide exchange activity 1428 1428 R->A: 80% decrease in nucleotide exchange activity 1430 1430 T->A: 80% decrease in nucleotide exchange activity 1431 1431 K->A: Loss of nucleotide exchange activity 1434 1434 L->A: 40% decrease in nucleotide exchange activity 1437 1437 K->A: No change in nucleotide exchange activity 1438 1438 E->A: 30% decrease in nucleotide exchange activity | N | |
10 | Q9HB21 | Pleckstrin homology domain-containing family A member 1 | 404 | 28 28 R->L: No effect on phosphatidylinositide binding 203 205 203 205 AVM->GGG: Abolishes phosphatidylinositide binding 203 205 203 205 AVM->GLV: Binds both PtdIns3,4P2 and PtdIns3,4,5P3 203 204 203 204 AV->GG: Binds both PtdIns3,4P2 and PtdIns3,4,5P3 203 203 A->G: Binds both PtdIns3,4P2 and PtdIns3,4,5P3 204 204 V->L: No effect 205 205 M->V: No effect 207 207 N->T: No effect 211 211 R->L: Abolishes phosphatidylinositide binding | Y | |
11 | O75689 | Arf-GAP with dual PH domain-containing protein 1 | 374 | 21 21 C->A: Loss of GTPase-activating activity 24 24 C->A: Loss of GTPase-activating activity 149 149 R->C: 40-45% reduction in PtdInsP2 3-kinase dependent membrane localization when associated with C-273 273 273 R->C: 70% reduction in PtdInsP2 3-kinase dependent membrane localization when associated with C-149 | Y | |
12 | Q494U1 | Pleckstrin homology domain-containing family N member 1 | 663 | 2 2 G->A: Loss of myristoylation, reduced protein stability, morphological alterations in mitochondria but no effect on its mitochondrial localization 302 302 Y->F: Loss of phosphorylation and interaction with C1QBP when associated with F-456 456 456 Y->F: Loss of phosphorylation and interaction with C1QBP when associated with F-302 | Y |