Table 3.
Currently known VPS33B gene mutation sites associated with prolonged survival in ARC syndrome.
| Patient | Gene | Mutation sites | Hom/Het | Amino acid |
|---|---|---|---|---|
| 1 (12) | VPS33B | c.1225 + 5G > C | ||
| c.1246C > T | hom | p.R416X | ||
| 2 (4) | VPS33B | c.1157A > C | hom | p.His386Pro |
| 3 (4) | ||||
| 4 (13) | VPS33B | c.1609_1657 + 9del | ||
| c.1225 + 5G > C | ||||
| 5 (14) | VPS33B | c.1225 + 5G > C | het | |
| c.440_499del | het | Pro147Argfs*4 | ||
| 6 (15) | VPS33B | c.1148T > A | hom | p.(Ile383Asn) |
| 7 (15) | VPS33B | c.1148T > A | hom | p.(Ile383Asn) |
| 8 (15) | VPS33B | c.1148T > A | het | p.(Ile383Asn) |
| c.940-2A > G | het | |||
| 9 (16) | VPS33B | c.403 + 2T > A | het | |
| c.1582-9C > G | het | |||
| 10 (16) | VIPAS39 | c.339del | het | p.(Phe113Leufs*60)] |
| c.1035C > G | het | p.(Tyr345*) | ||
| 11 (17) | VPS33B | c1225 + 5G > C | ||
| 12 (18) | VPS33B | c.[390G > A;392G > A] | hom | p.Gly131Glu |
| 13 (18) | VPS33B | c.[390G > A;392G > A] | hom | p.Gly131Glu |
| 14 (18) | VPS33B | c.[390G > A;392G > A] | het | p.Gly131Glu |
| c.240-1G > C | het | |||
| 15 (8) | VPS33B | c.240–577_290-156del | het | p.Gln421Valfs∗8 |
| c.1225 + 5G > C. | ||||
| 16 (8) | VPS33B | c.1261_1262delCA | het | p.Gln421Valfs∗8 |
| c.1225 + 5G > C | ||||
| 17 (19) | VPS33B | c.1726T > C | hom | p.Cys576Arg |
| 18 (19) | VPS33B | c.1726T > C | het | p.Cys576Arg |
| 19 (19) | VPS33B | c.1726T > C | het | p.Cys576Arg |