NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
No. of putative disease causing mutations: 2
No. of polymorphisms: 3
| Identifier | Nucleotide change | Mutation | Amino acid change/
Predicted consequence |
Location | Restriction site change | Phenotype | No of families with mutation | Country/ies of origin | Reference |
|---|---|---|---|---|---|---|---|---|---|
| clcn6.003 | c.231G/A | Polymorphism | No amino acid change | 3/100 | Poët et al. 2006 Proc Natl Acad Sci 103:13854-59 | ||||
| clcn6.004 | c.593G/A | Polymorphism | p.198Gly/Glu | 5/100 | Poët et al. 2006 Proc Natl Acad Sci 103:13854-59 | ||||
| clcn6.001 | c.1738G>A | Missense | p.Val580Met | exon 17 helix R |
teenage onset | 1 | Poland | Poët et al. 2006 Proc Natl Acad Sci 103:13854-59 | |
| clcn6.002 | c.1883C>G | Missense | p.Thr628Arg | exon 18 CBS domain |
adult onset | 1 | USA | Poët et al. 2006 Proc Natl Acad Sci 103:13854-59 | |
| clcn6.005 | c.1911A/G | Polymorphism | No amino acid change | 2/100 | Poët et al. 2006 Proc Natl Acad Sci 103:13854-59 |
Both these mutations were on one chromosome of the respective patients. A second mutation in the same gene was not found.
'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