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. patients 4
No. families 3
DB Patient ID Other Patient ID Allele 1 Allele 2 Nucleotide changes in same gene Nucleotide changes in other genes Phenotype Age at onset Histology Country of origin Country of residence Reference PMID Notes
Pa-ctsf.001 Ku4_II-3_Smith_2013 p.Gly458Ala p.Ser480Leu     Kufs B 20 y   Italy   23297359   Siblings
Pa-ctsf.002 Ku4_II-2_Smith_2013 p.Gly458Ala p.Ser480Leu     Kufs B 32 y   Italy   23297359    
Pa-ctsf.003 Ku10_II-1_Smith_2013 p.Gln321Arg p.Gln321Arg Kufs B 24 y Canada (French) 23297359
Pa-ctsf.004 Ku16_II-2_Smiith_2013 p.Tyr231Cys p.Ser319LeufsX27 Kufs B Australia 23297359
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (varaint late infantile), J Juvenile (5-10 yr), A Adult 
GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed