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 5
No. of sequence variations 0
 No. of changes 5
Additional Notes
Identifier Mutation Location Nucleotide Change Protein Change Type of Mutation Predicted Functional Effect Phenotype 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 n.a. 23297359 Pa-ctsf.001, Pa-ctsf.002
ctsf.002 M: Exon 13 c.1439C>T p.Ser480Leu Missense Probably damaging Kufs type B 1 Italy n.a. 23297359 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) n.a. 23297359 Pa-ctsf.003
ctsf.004 E: Exon 5 c.802A>G p.Tyr231Cys Missense Probably damaging Kufs type B 1 Australia n.a. 23297359 Pa-ctsf.004
ctsf.005 G: Exon 7 c.954delC p.Ser319Leufs*27 Frameshift Probably damaging Kufs type B 1 Australia n.a. 23297359 Pa-ctsf.004
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