NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
No. of disease causing mutations: 4
No. of polymorphisms: 0
Testing a new table format:
| Gene Symbol | CTSD | |||||
| Gene ID | 1509 | |||||
| Chromosomal Location | 11p15.5 | |||||
| Identifier | Mutation Location | Nucleotide Change | Predicted / Demonstrated effect on the protein | Number of families with mutation | Country of origin | Primary Reference ID |
| ctsd.001 | Exon 5 | c.685T>A | p.Phe229Ile | 1 | Germany | 16685649 |
| ctsd.002 | Exon 9 | c.1149G>C | p.Trp383Cys | 1 | Germany | 16685649 |
| ctsd.003 | Exon 6 | c.764dupA | p.Tyr255X | 1 | Pakistan | 16670177 |
| ctsd.003 | Exon 6 | c.845G>A | p.Gly282Arg | 1 | Pakistan | 16670177 |
| ctsd.004 | Exon 3 | c.299C>T | p.Ser100Phe | 1 | USA | 18762956 |
| ctsd.005 | Intron 3 | c.353-17C>T | Splice defect / polymorphism?? | 1 | Canada | 21990111 |
| ctsd.006 | Intron 3 | c.353-12C>T | Splice defect / polymorphism?? | 1 | Canada | 21990111 |
| ctsd.007 | Intron 6 | c.827+13T>C | Splice defect / polymorphism?? | 1 | Canada | 21990111 |
| ctsd.008 | Intron 6 | c.828-17G>A | Splice defect / polymorphism?? | 1 | Canada | 21990111 |
| Identifier | Nucleotide change | Mutation | Amino acid change/
Predicted consequence |
Location | Restriction site change | Phenotype | Histology | No of families with mutation | Country/ies of origin | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| ctsd.004 | c.299C>T | Missense | p.Ser100Phe | Exon 3 | Congenital | GROD | 1 | USA | Fritchie et al 2008. Acta Neuropathol 117: 201-208 | |
| ctsd.001 | c.685T>A | Missense | p.Phe229Ile | Exon 5 |
vLINCL | GROD, myelin-like lamellar structures | 1 | Germany | Steinfeld et al. 2006. Am J Hum Genet 78:988-98 |
|
| ctsd.003 | c.764dupA;c.845G>A | Missense | p.Tyr255X;p.Gly282Arg Truncated protein |
Exon 6; Exon 7 | Congenital | 1 | Pakistan | Siintola et al. 2006. Brain 129:1438-45 | ||
| ctsd.002 | c.1149G>C | Missense | p.Trp383Cys |
Exon 9 | vLINCL | GROD, myelin-like lamellar structures | 1 | Germany | Steinfeld et al. 2006. Am J Hum Genet 78:988-9 |
Nomenclature follows the guidelines for mutation nomenclature where possible (http://www.hgvs.org/rec.html).
'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