Variants may affect ADAMTS13 protein binding or active site
| sSNV . | ID . | Exon # . | Domain . | AA # . | AA . | Comments . |
|---|---|---|---|---|---|---|
| 451C>T | rs781937618 | 5 | M | 151 | L | One of surface residues in ADAMTS13 subsite pockets localized in positions essential to accommodate VWF |
| 546C>T (*) | rs148849381 | 6 | M | 182 | D | Coordinate metal binding, in Ca-binding loop (180-193) |
| 552G>A (*) | rs782652490 | 6 | M | 184 | E | Identified in Ca-binding loop (180-193) that occlude the active-site cleft |
| 567C>T (*) | rs782555111 | 6 | M | 189 | N | Identified in Ca-binding loop (180-193) that occlude the active-site cleft |
| 762C>T | rs1212704138 | 7 | M | 254 | A | Involved in ionic interaction that bridge loops 180-193 and 231-263 that stabilized the metal-binding pocket |
| 768C>G | rs1340581969 | 7 | M | 256 | P | Stabilized subsite pocket and essential to accommodate VWF |
| 771C>T | rs947504635 | 7 | M | 257 | R | In substrate binding face in distal domain |
| 834G>T (*) | rs587671802 | 8 | M | 278 | R | In metalloprotease loop that connect distal domain and coordinate Ca-binding site |
| 1020C>T | rs144498742 | 9 | D | 340 | D | Responsible for a negative charged patch on the surface essential for electrostatic interaction with VWR |
| 1833C>T (†) | rs1373112883 | 16 | S | 611 | I | Locate within hydrophobic pocket. Part of spacer domain exosite involved in VWR binding |
| 1860C>T | rs751652402 | 16 | S | 620 | L | One of hydrophobic residues cluster on the surface. Part of spacer domain exosite involved in VWR binding |
| 1923G>A | rs977615435 | 16 | S | 641 | E | Charged residue not directed into solvent interface |
| 1980G>A (†) | rs1397130583 | 17 | S | 660 | R | Part of spacer exosite, involved in interaction between CUB essential to fold back into close conformation |
| sSNV . | ID . | Exon # . | Domain . | AA # . | AA . | Comments . |
|---|---|---|---|---|---|---|
| 451C>T | rs781937618 | 5 | M | 151 | L | One of surface residues in ADAMTS13 subsite pockets localized in positions essential to accommodate VWF |
| 546C>T (*) | rs148849381 | 6 | M | 182 | D | Coordinate metal binding, in Ca-binding loop (180-193) |
| 552G>A (*) | rs782652490 | 6 | M | 184 | E | Identified in Ca-binding loop (180-193) that occlude the active-site cleft |
| 567C>T (*) | rs782555111 | 6 | M | 189 | N | Identified in Ca-binding loop (180-193) that occlude the active-site cleft |
| 762C>T | rs1212704138 | 7 | M | 254 | A | Involved in ionic interaction that bridge loops 180-193 and 231-263 that stabilized the metal-binding pocket |
| 768C>G | rs1340581969 | 7 | M | 256 | P | Stabilized subsite pocket and essential to accommodate VWF |
| 771C>T | rs947504635 | 7 | M | 257 | R | In substrate binding face in distal domain |
| 834G>T (*) | rs587671802 | 8 | M | 278 | R | In metalloprotease loop that connect distal domain and coordinate Ca-binding site |
| 1020C>T | rs144498742 | 9 | D | 340 | D | Responsible for a negative charged patch on the surface essential for electrostatic interaction with VWR |
| 1833C>T (†) | rs1373112883 | 16 | S | 611 | I | Locate within hydrophobic pocket. Part of spacer domain exosite involved in VWR binding |
| 1860C>T | rs751652402 | 16 | S | 620 | L | One of hydrophobic residues cluster on the surface. Part of spacer domain exosite involved in VWR binding |
| 1923G>A | rs977615435 | 16 | S | 641 | E | Charged residue not directed into solvent interface |
| 1980G>A (†) | rs1397130583 | 17 | S | 660 | R | Part of spacer exosite, involved in interaction between CUB essential to fold back into close conformation |
Variants listed are ADAMTS13 sSNVs that may affect protein binding or active site. Asterisks highlight sSNVs also predicted to affect mRNA splicing; daggers highlight sSNVs also predicted to affect miRNA-binding sites. AA, amino acid; D, disintegrin-like; M, metalloproteinase; S, spacer.