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 mutationsLNDLNVNATotal
Single base substitutions2551215381
Deletions14666158
Duplications373040
Other mutations2312136
Total46114212615


Single base substitutionsLNDLNVNATotal
Missense1311074242
Nonsense471149
Splice error7713090
Total2551215381


DeletionsLNDLNVNATotal
Coding sequences13855148
Splice error81110
Total14666158


DuplicationsLNDLNVNATotal
Coding sequences353038
Splice error2002
Total373040


Other mutationsLNDLNVNATotal
Translocation1001
Regulatory [1]2406
Double mutation0202
Insertation3104
Complex deletion93113
Females [2]82010
Total2312136





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