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The 10 C2 Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthC2 RegionMutationInvolvement of Repeats in Mutations
1 Q9HCH5 Synaptotagmin-like protein 2 93411 11 E->A: Abolishes interaction with RAB27A
32 32 R->A: Abolishes interaction with RAB27A
N
2 Q9NZM1 Myoferlin 2061238 240 238 240 NPF->SPL: Reduces interaction with EHD2
Y
3 O75923 Dysferlin 208016 16 D->A: Fails to bind calcium
21 21 D->A: Fails to bind calcium
71 71 D->A: Fails to bind calcium
79 79 R->D: Moderately increased calcium affinity
80 80 F->A: Reduced calcium affinity
Y
4 Q14644 Ras GTPase-activating protein 3 834599 599 K->Q: No binding to IP4 and loss of plasma membrane localization
600 600 K->Q: No binding to IP4 and loss of plasma membrane localization
601 601 R->Q: No binding to IP4 and loss of plasma membrane localization
N
5 Q99829 Copine-1 53721 21 D->A: Inhibits translocation to the cell membrane in a calcium-dependent manner and does not inhibit neuronal progenitor cell differentiation
when associated with A-90
90 90 D->A: Inhibits translocation to the cell membrane in a calcium-dependent manner and does not inhibit neuronal progenitor cell differentiation
when associated with A-21
216 216 D->A: Inhibits translocation to the cell membrane in a calcium-dependent manner and does not inhibit neuronal progenitor cell differentiation
when associated with A-222
222 222 D->A: Inhibits translocation to the cell membrane in a calcium-dependent manner and does not inhibit neuronal progenitor cell differentiation
when associated with A-216
Y
6 O00445 Synaptotagmin-5 386202 202 S->G: Does not affect Ca(2+) affinity as measured by isothermal titration calorimetry of the mutant protein
Y
7 Q9BSJ8 Extended synaptotagmin-1 1104406 406 D->A: No effect on translocation to sites of contact between the endoplasmic reticulum and the cell membrane
663 663 D->A: Abolishes location at the cell membrane
when associated with A-675 and 722-A--A-729
675 675 D->A: Abolishes location at the cell membrane
when associated with A-675 and 722-A--A-729
722 729 722 729 DKDLDKDD->AKALAKAA: Abolishes location at the cell membrane
when associated with A-663 and A-675
724 724 D->A: Loss of translocation to sites of contact between the endoplasmic reticulum and the cell membrane
Y
8 A0FGR8 Extended synaptotagmin-2 921401 401 D->A: Abolishes calcium binding
when associated with A-413
413 413 D->A: Abolishes calcium binding
when associated with A-401
413 413 D->N: Strongly reduces calcium binding
466 466 D->A: Impairs binding of the third calcium ion, but has no effect on the binding of the other two calcium ions
833 840 833 840 KRRSGRRK->AAASGAAA: Abolishes location at the cell membrane
Y
9 Q86UR5 Regulating synaptic membrane exocytosis protein 1 1692796 797 796 797 RR->AA: Abolishes interaction with SYT1 and CACNA1B
1591 1592 1591 1592 KK->AA: Abolishes interaction with SYT1 and CACNA1B
Y
10 Q70J99 Protein unc-13 homolog D 1090608 611 608 611 Missing: Abolishes localization to lysosomes and interaction with RAB27A
N