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 |
|---|---|---|---|---|---|---|
| octsd.001 | c.???G>A | Missense | p.Asp269Asn
|
Tyynela et al. 2000 EMBO J 19:2786-2792 |
cDNA: AF164143
Genomic sequence:
The mutation at residue D269 of ovine CTSD corresponds to D295 of the human gene, and occurs at the equivalent nucleotide residue to G934 of the human CTSD cDNA
'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