ADAMTS13 nonsynonymous variants found in aHUS patients
| Exon . | dbSNP ID . | Nucleotide . | Protein . | Domain . | Number of patients . | In vitro expression studies . | ||
|---|---|---|---|---|---|---|---|---|
| Secretion . | Activity . | Reference . | ||||||
| 1 | rs34024143 | c.19C>T | p.Arg7Trp | Signal | 6 | 99% | 86% | 20 |
| 12 | rs2301612 | c.1342C>G | p.Q448E | Cys-rich | 14 | 95% | 75% | 20 |
| 16 | rs28647808 | c.1852C>G | p.P618A | Spacer | 4 | 27% | 14% | 20 |
| 18 | rs41314453 | c.2195C>T | p.A732V | TSP1-2 | 1 | 60% | 71% | 20 |
| 19a | — | c.2240C>T | p.A747V | TSP1-3 | 1 | — | — | |
| 20a | rs34104386 | c.2494G>A | p.V832M | TSP1-4 | 1 | — | — | |
| 21 | rs685523 | c.2699C>T | p.A900V | TSP1-5 | 7 | — | — | |
| 24 | rs28503257 | c.3097G>A | p.A1033T | TSP1-7 | 1 | 100% | 80% | 4 |
| 25a | rs61751476 | c.3287G>A | p.R1096H | TSP1-8 | 1 | — | — | |
| Exon . | dbSNP ID . | Nucleotide . | Protein . | Domain . | Number of patients . | In vitro expression studies . | ||
|---|---|---|---|---|---|---|---|---|
| Secretion . | Activity . | Reference . | ||||||
| 1 | rs34024143 | c.19C>T | p.Arg7Trp | Signal | 6 | 99% | 86% | 20 |
| 12 | rs2301612 | c.1342C>G | p.Q448E | Cys-rich | 14 | 95% | 75% | 20 |
| 16 | rs28647808 | c.1852C>G | p.P618A | Spacer | 4 | 27% | 14% | 20 |
| 18 | rs41314453 | c.2195C>T | p.A732V | TSP1-2 | 1 | 60% | 71% | 20 |
| 19a | — | c.2240C>T | p.A747V | TSP1-3 | 1 | — | — | |
| 20a | rs34104386 | c.2494G>A | p.V832M | TSP1-4 | 1 | — | — | |
| 21 | rs685523 | c.2699C>T | p.A900V | TSP1-5 | 7 | — | — | |
| 24 | rs28503257 | c.3097G>A | p.A1033T | TSP1-7 | 1 | 100% | 80% | 4 |
| 25a | rs61751476 | c.3287G>A | p.R1096H | TSP1-8 | 1 | — | — | |
ID, identification.
Rare variants with minor allele frequencies <1%.