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 |
|---|---|---|---|---|---|---|
| ocln5.001 | c.571+1G>A | Splicing site | Excision of exon 3 in transcript, frameshift and truncated protein of 125 amino acids | Intron 3 | Frugier et al. 2008. Neurobiol. Dis 29: 306-315 |
'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