NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
No. of disease causing mutations: 1
| Identifier | Nucleotide change | Mutation | Amino acid change/ Predicted consequence | Location | Restriction site change | Reference |
|---|---|---|---|---|---|---|
| dcln2.001 | c.325delC | 1-bp deletion | Truncated protein Frame shift after amino acid 107 with stop codon at position 114 |
Exon 4 | Awano et al. 2006 Mol Genet Metab 89:254-260 |
'NCL Resource' is maintained by Sara Mole.
MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London. WC1E 6BT. United Kingdom.
If you have comments or suggestions or details for inclusion, email ncl-www@ucl.ac.uk or telephone +44 207 679 7257.
Last updated 23/1/2013