Table 1.
Copy numbers of CFHR3, CFHR1, and CFHR4 and LPVs in complement genes observed in aHUS patients with anti-FHs.
| Patient ID | Number of copies | LPVs | MAF (ExAC) | CADD | Functional effect | Association with aHUS (complement-db.org) | ||
|---|---|---|---|---|---|---|---|---|
| CFHR3 | CFHR1 | CFHR4 | ||||||
| 1 | 0 | 0 | 2 | nd | ||||
| 2 | 0 | 0 | 2 | CFH c.2850G>T, p.Gln950His | 0.004 | 21.4 | Yes | No |
| 3 | 0 | 0 | 2 | nd | ||||
| 4 | 1 | 0 | 1 | nd | ||||
| 5 | 0 | 0 | 2 | nd | ||||
| 6 | 0 | 0 | 2 | C3 c.1909G>C, p.Gly637Arg | 0.0002 | 23.5 | No | No |
| 7 | 0 | 0 | 2 | THBD c.1693 G>T, p.Asp486Tyr | 0.006 | 6.12 | Yes | No |
| 8 | 0 | 0 | 2 | nd | ||||
| 9 | 0 | 0 | 2 | nd | ||||
| 10 | 0 | 0 | 2 | nd | ||||
| 11 | 0 | 0 | 2 | nd | ||||
| 12 | 0 | 0 | 2 | nd | ||||
| 13 | 1 | 1 | 2 | CD46 c.762delT, p.Leu254fsX43 | na | 17.57 | Yes | No |
| 14 | 0 | 0 | 2 | nd | ||||
| 15 | 0 | 0 | 2 | nd | ||||
| 16 | 1 | 0 | 1 | nd | ||||
| 17 | 0 | 0 | 2 | nd | ||||
| 18 | 0 | 0 | 2 | nd | ||||
| 19 | 1 | 1 | 2 | THBD c.1502C>T, p.Pro501Leu | 0.002 | 24.7 | Yes | Yes |
| 20 | 0 | 0 | 2 | nd | ||||
| 21 | 2 | 2 | 2 | C3 c.1774C>T, p.Arg592Trp | 8 × 10−6 | 34 | Yes | Yes |
| 22 | 0 | 0 | 2 | nd | ||||
| 23 | 1 | 1* | 2 | nd | ||||
| 24 | 0 | 0 | 2 | CFH c.2758T>C, p.Trp920Arg | na | 27 | No | Yes |
| 25 | 0 | 0 | 2 | nd | ||||
| 26 | 1 | 1 | 2 | nd | ||||
| 27 | 0 | 0 | 2 | CFH c.2776T>C, p.Cys926Arg | na | 28.4 | No | No |
| 28 | 1 | 0 | 1 | nd | ||||
| 29 | 1 | 0 | 1 | THBD c. 241G>A, p.Val81Ile | 9 × 10−6 | 8.28 | Yes | Yes |
| 30 | 2 | 2 | 2 | nd | ||||
The Minor Allelic Frequency (MAF) of LPVs from the ExAC database, the Combined Annotation Dependent Depletion (CADD) score, the availability of published data on functional effects, and the association with aHUS in the database of complement gene variants (complement-db.org) are also shown. Nd, not detected; na, not available.
*
The CFHR1 c.104delAfsX, p.D35fsX36 was observed in this patient.