Table 4.
Reported Mutations Causing The Porphyrias (HGMD v2018.2)
| HGMD Porphyria |
ALAD ADP |
HMBS AIP |
CPOX HCP |
PPOX VP |
UROS CEP |
UROD PCT |
FECH EPP |
ALAS2 XLP |
|
|---|---|---|---|---|---|---|---|---|---|
| Mutation Type: | |||||||||
| Missense | 9 | 140 | 43 | 69 | 30 | 71 | 54 | 1 | |
| Nonsense | 0 | 33 | 6 | 18 | 1 | 8 | 26 | 1 | |
| Splicing substitutions (Consensus) | 0 | 76 | 2 | 22 | 2 | 10 | 39 | 0 | |
| Splicing substitutions (Cryptic) | 2 | 15 | 2 | 7 | 2 | 3 | 7 | 0 | |
| Regulatory substitutions | 0 | 7 | 0 | 4 | 6 | 1 | 2 | 0 | |
| Small deletions | 1 | 84 | 7 | 36 | 2 | 16 | 40 | 3 | |
| Small insertions/duplications | 0 | 41 | 7 | 21 | 2 | 7 | 10 | 0 | |
| Small indels | 0 | 8 | 1 | 3 | 1 | 1 | 1 | 0 | |
| Gross deletions | 0 | 13 | 3 | 3 | 2 | 5 | 13 | 1 | |
| Gross insertions/duplications | 0 | 2 | 0 | 1 | 2 | 0 | 0 | 0 | |
| Complex rearrangements | 0 | 2 | 0 | 0 | 1 | 0 | 3 | 0 | |
| Repeat variations | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| TOTAL | 12 | 421 | 71 | 184 | 51 | 122 | 195 | 6 | |