CLN10/CTSD

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).

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