NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
No. of putative disease causing mutations: 2
No. of polymorphisms:
| Identifier | Nucleotide change | Mutation | Amino acid change/
Predicted consequence |
Location | Restriction site change | Phenotype | No of families with mutation | Country/ies of origin | Reference |
|---|---|---|---|---|---|---|---|---|---|
| sgsh.001 | c.904T>C | Missense | p.Ser298Pro | 1 | Sleat et al. 2009. Mol Cell Proteomics 8:1708-18 |
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| sgsh.002 | c.1075G>A | Missense | p.Glu355Lys | 1 | Sleat et al. 2009. Mol Cell Proteomics 8:1708-18 |
A single case that was diagnosed wth ANCL lacked SGSH protein and carried two heterozygos mutations in SGSH. These mutations are more usually found to cause MPSIIIA, and this case is more accurately decribed as late onset MPSIIIA.
'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