HJV mutations that have been identified in patients with JH
| Nucleotide change | Exon | Residue | Alleles | Reference(s) |
|---|---|---|---|---|
| *Information available at the time of final publication.45 | ||||
| 18G→C | 2 | Q6H | 1 | 46 |
| 220delG | 3 | V74fsX113 | 1 | 44 |
| * | 3 | C80R | 1 | 45 |
| 253T→C | 3 | S85P | 2 | 44 |
| 295G→A | 3 | G99R | 1 | 44 |
| 296G→T | 3 | G99V | 1 | 23 |
| 302T→C | 3 | L101P | 2 | 44, 46 |
| 391–403ddel | 3 | R131fsX245 | 2 | 44 |
| 445delG | 3 | R149fsX245 | 6 | 44 |
| 503C→A | 3 | A168D | 2 | 44 |
| 509T→C | 3 | F170S | 4 | 44 |
| 516C→G | 3 | D172E | 1 | 44 |
| 573G→T | 3 | W191C | 2 | 44 |
| 615C→G | 3 | S205R | 1 | 44 |
| 665T→C | 4a | I222N | 2 | 23, 45 |
| 739G→T | 4a | G250V | 1 | 44 |
| 806–807insA | 4a | N269fsX311 | 1 | 44 |
| 842T→C | 4a | I281T | 2 | 23, 46 |
| 863C→T | 4a | R288W | 2 | 44 |
| 954–955insG | 4a | G319fsX341 | 1 | 44 |
| 959G→T | 4b | G320V | 46 | 23, 44, 45 |
| 962G→A 963C→A | 4b | C321X | 1 | 46 |
| 976C→T | 4b | R326X | 1 | 23 |
| 1079delC | 4b | C361fsX366 | 14 | 23 |
| 1153C→T | 4b | R385X | 4 | 44 |