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The 12 PH Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthPH RegionMutationInvolvement of Repeats in Mutations
1 Q8N556 Actin filament-associated protein 1 73071 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 8184 4 Y->F: Reduced interaction with SRC
N
3 O14827 Ras-specific guanine nucleotide-releasing factor 2 1237737 737 S->A: Loss of phosphorylation by CDK5
N
4 O60229 Kalirin 29852712 2712 K->A: Loss of autophosphorylation
N
5 Q8WWN8 "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 "1544307 308 307 308 RR->AA: Loss of PtdIns(3,4,5)P3 binding
Y
6 Q9Y4G2 Pleckstrin homology domain-containing family M member 1 1056720 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 1591879 879 K->E: Strongly reduces affinity for SDC1
912 912 K->E: Strongly reduces affinity for SDC1
N
8 Q9HD67 Unconventional myosin-X 2058795 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 30971299 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 40428 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 37421 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 6632 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