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 10
No. of polymorphic variations 5
Total No. of changes 15
Additional notes
Identifier Location DNA Change Protein Change Type of Mutation Predicted Functional Effect Phenotype Progression 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 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  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  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 ? late infantile 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 ? late infantile 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 ? late infantile 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 ? late infantile 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 late infantile 1 Pakistan 16670177 Siintola et al, Brain, 2006 Pa-ctsd.002  in cis with p.Tyr255*; rs147278302
ctsd.010 J: Exon 9 c.1196G>A p.(Arg399His) Missense Probably damaging juvenile 1 Somalia 25298308 Hersheson et al, Neurology, 2014 Pa-ctsd.004 initially diagnosed with cerebellar ataxia and retinitis pigmentosa
ctsd.011 E: Exon 4 c.446G>T p.(Gly149Val) Missense Probably damaging juvenile 1 Somalia 25298308 Hersheson et al, Neurology, 2014 Pa-ctsd.009-012
ctsd.012 p.(Lys331del) Deletion juvenile 1 The Netherlands N.A. S Mole pers comm Pa-ctsd.013-014
ctsd.013 H: Exon 7 c.970G>A p.(Glu324Lys) Missense Probably damaging juvenile 1 Canada N.A. D. Callen, pers comm Pa-ctsd.015
cstd.014 D: Exon 3 c.268_269insC Insertion congenital  1 Germany 26059544 Meyer et al. Wien Med Wochenschr (2015)  Pa-ctsd.016-017
ctsd.015 C: Exon 2 c.205G>A p.(Glu69Lys) infantile GROD 1 Italy 27072142 Doccini et al. J Neurol (2016)  Pa-ctsd.018
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