Gene Symbol CTSF
Gene ID 8722
Chromosomal Location 11q13
Genomic RefSeqGene NG_032973.1 12113 bp
Transcript RefSeq NM_003793.3 2032 bp
Protein RefSeq NP_003784.2 484 aa
No. of disease mutations 11
No. of sequence variations 0
 No. of changes 11
Additional Notes
Identifier Mutation Location Nucleotide Change Protein Change Type of Mutation Predicted Functional Effect NCL Phenotype or other disease Histology No. of families  Country of origin PMID References Patients Notes
ctsf.001 L: Exon 12 c.1373G>C p.(Gly458Ala) Missense Probably damaging Kufs type B 1 Italy 23297359 Smith et al., Hum Mol Genet. 2013 Pa-ctsf.001, Pa-ctsf.002
ctsf.002 M: Exon 13 c.1439C>T p.(Ser480Leu) Missense Probably damaging Kufs type B 1 Italy 23297359 Smith et al., Hum Mol Genet. 2013 Pa-ctsf.001, Pa-ctsf.002
ctsf.003 G: Exon 7 c.962A>G p.(Gln321Arg) Missense Probably damaging Kufs type B 1 Canada (French) 23297359 Smith et al., Hum Mol Genet. 2013 Pa-ctsf.003
ctsf.004 E: Exon 5 c.802A>G p.(Tyr231Cys) Missense Probably damaging Kufs type B 1 Australia 23297359 Smith et al., Hum Mol Genet. 2013 Pa-ctsf.004
ctsf.005 G: Exon 7 c.954delC p.(Ser319Leufs*27) Frameshift Probably damaging Kufs type B 1 Australia 23297359 Smith et al., Hum Mol Genet. 2013 Pa-ctsf.004
ctsf.006 c.213+1G>C splice site Kufs type B 1 Italy 25274848 Fabio et al. Neurology 2014 Pa-ctsf.005-007 transcript lacking exon 1
ctsf.007 p.(Gly415Arg) Missense Early onset Alzheimers 1 Morocco 27524508 Bras et al. Neurobiol Aging (2016) Pa-ctsf.008 2 siblings, but only sequence information from 1
ctsf.008 p.(Ile404Thr) Missense Kufs 1 Belgium 27668283 van der Zee et al. Am Acad Neurol (2016) Pa-ctsf-009-12
ctsf.009 p.(Arg245His) Missense Frontotemporal dementia 2 Belgium 27668283 van der Zee et al. Am Acad Neurol (2016) Pa-ctsf-013-14 unrelated, but shared haplotype
ctsf.010 c.977G>T  p.(Cys326Phe) Missense Probably damaging Kufs type B 1 China 29120254 Wang et al Int J Neurol (2017)  Pa-ctsf-015
ctsf.011 c.416C>A p.(Ser139*) Missense Kufs type B 1 China 29120254 Wang et al Int J Neurol (2017)  Pa-ctsf-015
Notes
Recommended mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
C - around birth, I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
See dbSNP for more short genetic variations
Last updated 04-Dec-17