Mutations database
(This section is available in English language only)
Many mutations responsible for either full (causing classic LND) or partial (causing LNV, Lesch-Nyhan variants) deficiency of HPRT have been identified. Summaries of the different mutation categories appear in the tables below. All individual mutations in each category are listed in separate tables, which can be selected from the menu of the left.
If you would like to add a new mutation which does not appear in these lists, please contact the authors.
| All mutations | LND | LNV | NA | Total |
| Single base substitutions | 255 | 121 | 5 | 381 |
| Deletions | 146 | 6 | 6 | 158 |
| Duplications | 37 | 3 | 0 | 40 |
| Other mutations | 23 | 12 | 1 | 36 |
| Total | 461 | 142 | 12 | 615 |
| Single base substitutions | LND | LNV | NA | Total |
| Missense | 131 | 107 | 4 | 242 |
| Nonsense | 47 | 1 | 1 | 49 |
| Splice error | 77 | 13 | 0 | 90 |
| Total | 255 | 121 | 5 | 381 |
| Deletions | LND | LNV | NA | Total |
| Coding sequences | 138 | 5 | 5 | 148 |
| Splice error | 8 | 1 | 1 | 10 |
| Total | 146 | 6 | 6 | 158 |
| Duplications | LND | LNV | NA | Total |
| Coding sequences | 35 | 3 | 0 | 38 |
| Splice error | 2 | 0 | 0 | 2 |
| Total | 37 | 3 | 0 | 40 |
| Other mutations | LND | LNV | NA | Total |
| Translocation | 1 | 0 | 0 | 1 |
| Regulatory [1] | 2 | 4 | 0 | 6 |
| Double mutation | 0 | 2 | 0 | 2 |
| Insertation | 3 | 1 | 0 | 4 |
| Complex deletion | 9 | 3 | 1 | 13 |
| Females [2] | 8 | 2 | 0 | 10 |
| Total | 23 | 12 | 1 | 36 |