S.NO | Uniprot ID | Protein Name | Sequence Length | C2 Region | Mutation | Involvement of Repeats in Mutations |
1 | Q9HCH5 | Synaptotagmin-like protein 2 | 934 | 11 11 E->A: Abolishes interaction with RAB27A 32 32 R->A: Abolishes interaction with RAB27A | N | |
2 | Q9NZM1 | Myoferlin | 2061 | 238 240
238 240 NPF->SPL: Reduces interaction with EHD2 | Y | |
3 | O75923 | Dysferlin | 2080 | 16 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 | 834 | 599 599 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 | 537 | 21 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 | 386 | 202 202 S->G: Does not affect Ca(2+) affinity as measured by isothermal titration calorimetry of the mutant protein | Y | |
7 | Q9BSJ8 | Extended synaptotagmin-1 | 1104 | 406 406 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 | 921 | 401 401 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 | 1692 | 796 797
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 | 1090 | 608 611
608 611 Missing: Abolishes localization to lysosomes and interaction with RAB27A | N |