Summary of most frequently occurring synonymous variants of ADAMTS13
| sSNV . | ID . | Exon . | Domain . | AA # . | AA . | USS variant . | Frequency . | Source . |
|---|---|---|---|---|---|---|---|---|
| 1716G>A | rs3124768 | 15 | S | 572 | T | 0.488347 | HapMap | |
| 420T>C | rs3118667 | 5 | M | 140 | A | 0.45704 | ALFA | |
| 4221C>A | rs1055432 | 29 | CUB2 | 1407 | T | 0.316033 | ALFA | |
| 354G>A | rs28571612 | 4 | M | 118 | P | Y | 0.078803 | ALFA |
| 3108G>A | rs34934621 | 24 | T7 | 1036 | S | Y | 0.047011 | ALFA |
| 2508T>C | rs36221472 | 20 | T4 | 836 | D | Y | 0.006502 | ALFA |
| 357C>T | rs147563206 | 4 | M | 119 | S | 0.002774 | ALFA | |
| 546C>T | rs148849381 | 6 | M | 182 | D | 0.002196 | 1000Genomes | |
| 3150G>A | rs36222579 | 24 | T7 | 1050 | V | 0.001962 | ALFA | |
| 1551G>C | rs148472763 | 13 | C | 517 | G | Y | 0.001879 | ALFA |
| 936C>T | rs36219562 | 8 | D | 312 | R | Y | 0.001074 | ALFA |
| 2217C>T | rs144178018 | 18 | T2/T3 | 739 | L | Y | 0.001074 | ALFA |
| sSNV . | ID . | Exon . | Domain . | AA # . | AA . | USS variant . | Frequency . | Source . |
|---|---|---|---|---|---|---|---|---|
| 1716G>A | rs3124768 | 15 | S | 572 | T | 0.488347 | HapMap | |
| 420T>C | rs3118667 | 5 | M | 140 | A | 0.45704 | ALFA | |
| 4221C>A | rs1055432 | 29 | CUB2 | 1407 | T | 0.316033 | ALFA | |
| 354G>A | rs28571612 | 4 | M | 118 | P | Y | 0.078803 | ALFA |
| 3108G>A | rs34934621 | 24 | T7 | 1036 | S | Y | 0.047011 | ALFA |
| 2508T>C | rs36221472 | 20 | T4 | 836 | D | Y | 0.006502 | ALFA |
| 357C>T | rs147563206 | 4 | M | 119 | S | 0.002774 | ALFA | |
| 546C>T | rs148849381 | 6 | M | 182 | D | 0.002196 | 1000Genomes | |
| 3150G>A | rs36222579 | 24 | T7 | 1050 | V | 0.001962 | ALFA | |
| 1551G>C | rs148472763 | 13 | C | 517 | G | Y | 0.001879 | ALFA |
| 936C>T | rs36219562 | 8 | D | 312 | R | Y | 0.001074 | ALFA |
| 2217C>T | rs144178018 | 18 | T2/T3 | 739 | L | Y | 0.001074 | ALFA |
Briefly summarizes 12 sSNVs of ADAMTS13 with relatively high frequency (>0.001) according to the Allele Frequency Aggregator project (ALFA), the HapMap Project (HapMap), or the 1000 Genomes Project (1000Genomes). A complete description of other sSNV frequencies is provided in supplemental Excel Worksheet 1. AA, amino acid; C, cysteine-rich; D, disintegrin-like; M, metalloproteinase; S, spacer.