Mutations database (English 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.

 

Summary

mutation categoryLNDLNVOtherTotal
Deletion14557157
Duplication373040
Other2312136
Point mutation2541207381
TOTAL45914015614


Single base substitutions

mutation typeLNDLNVOtherTotal
Missense1311075243
Nonsense471149
Splice error7612189
TOTAL2541207381


Deletions

mutation typeLNDLNVOtherTotal
Coding sequences13756148
Splice error8019
TOTAL14557157


Duplications

mutation typeLNDLNVOtherTotal
Coding sequences353038
Splice error2002
TOTAL373040


Other mutations

mutation typeLNDLNVOtherTotal
Complex deletion93113
Double mutation0202
Female82010
Insertion3104
Regulatory2406
Translocation1001
TOTAL2312136