Gene Symbol CTSD
Gene ID 1509
Chromosomal Location 11p15.5
Genomic RefSeqGene NG_008655 18238 bp
Transcript RefSeq NM_001909.4 2141 bp
Protein RefSeq NP_001900 412
No. of disease mutations 7
No. of polymorphic variations 5
Total No. of changes 12
Additional notes
Identifier Location DNA Change Protein Change Type of Mutation Predicted Functional Effect Phenotype Histology No. of families  Country of origin PMID References Patients Notes
ctsd.001 F: Exon 5 c.685T>A p.(Phe229Ile) Missense Probably damaging Juvenile NCL GROD lamellar structures 1 Germany 16685649 Steinfeld et al, Am J of Hum Genet, 2006 Pa-ctsd.001
ctsd.002 J: Exon 9 c.1149G>C p.(Trp383Cys) Missense Probably damaging Juvenile GROD,  lamellar structures 1 Germany 16685649 Steinfeld et al, Am J of Hum Genet, 2006 Pa-ctsd.001
ctsd.003 G: Exon 6 c.764dupA p.(Tyr255*) Nonsense Congenital NCL 1 Pakistan 16670177 Siintola et al, Brain, 2006 Pa-ctsd.002
ctsd.004 D: Exon 3 c.299C>T p.(Ser100Phe) Missense Probably damaging Congenital NCL GROD 1 USA 18762956 Fritchie et al, Acta Neuropathol, 2009 Pa-ctsd.003
ctsd.005 D: Intron 3 c.353-17C>T Splice defect / Sequence variation ? LINCL 1 Canada 21990111 Kousi et al, Hum Mutat, 2012 Pa-ctsd.005
ctsd.006 D: Intron 3 c.353-12C>T Splice defect / Sequence variation ? LINCL 1 Canada 21990111 Kousi et al, Hum Mutat, 2012 Pa-ctsd.006
ctsd.007 G: Intron 6 c.827+13T>C Splice defect / Sequence variation ? LINCL 1 Canada 21990111 Kousi et al, Hum Mutat, 2012 Pa-ctsd.007
ctsd.008 G: Intron 6 c.828-17G>A Splice defect / Sequence variation ? LINCL 1 Canada 21990111 Kousi et al, Hum Mutat, 2012 Pa-ctsd.008
ctsd.009 H: Exon 7 c.845G>A p.(Gly282Arg) Sequence variation? Benign LINCL 1 Pakistan 16670177 Siintola et al, Brain, 2006 Pa-ctsd.002 in cis with p.Tyr255X; rs147278302
ctsd.010 J: Exon 9 c.1196G>A p.(Arg399His) Missense Probably damaging Juvenile 1 Somalia N.A. J Hersheson UCL  pers comm to NCL mutation database 2012 Pa-ctsd.004 initially diagnosed with cerebellar ataxia and retinisits pigmentosa
ctsd.011 E: Exon 4 c.446G>T p.(Gly149Val) Missense Probably damaging Juvenile 1 Somalia N.A. J Hersheson UCL  pers comm to NCL mutation database 2012 Pa-ctsd.009
ctsd.012 p.(Lys331del) Deletion juvenile 1 The Netherlands N.A. S Mole pers comm Pa-ctsd.010-011
Notes
Recommended Mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (variant late infantile), J Juvenile (5-10 yr), A Adult 
GROD, CL, RL, FP, condensed
See dbSNP for more short genetic variations