Gene Symbol CLN4/DNAJC5 CSPα
Gene ID 80331
Chromosomal Location 20q13.33
Genomic RefSeqGene NG_029805.1 47930 bp
Transcript RefSeq NM_025219.2 5307 bp
Protein RefSeq NP_079495.1 198 aa
No. of disease mutations 2
No. of sequence variations -
No. of changes 2
Additional notes
Identifier Location Nucleotide change Amino acid change Type of mutation Predicted functional effect Phenotype Histology No. of families  Country of origin PMID Reference Patients Notes
cln4.001 Exon 3 c.346_348delCTC p.Leu116del 3-bp deletion ANCL GROD 1 Czech Republic 21820099 Noskova et al 2011 Am J Hum Genet 12:241-52 cln4.001
cln4.001 Exon 3 c.346_348delCTC p.Leu116del 3-bp deletion   Kufs   1 USA 21820099 Noskova et al 2011 Am J Hum Genet 12:241-52 cln4.005
cln4.001 Exon 3 c.346_348delCTC p.Leu116del 3-bp deletion   Kufs GROD 1 USA 22235333 Velinov et al 2012 cln4.007
cln4.002 Exon 3 c.344T>G p.Leu115Arg Missense Benign ANCL GROD, CL, FP 1 The Netherlands 21820099 Noskova et al 2011 Am J Hum Genet 12:241-52 cln4.002
cln4.002 Exon 3 c.344T>G p.Leu115Arg Missense Benign ANCL 1 USA 21820099 Noskova et al 2011 Am J Hum Genet 12:241-52 cln4.003
cln4.002 Exon 3 c.344T>G p.Leu115Arg Missense Benign Kufs GROD 1 USA, French-Canadian 21820099 Noskova et al 2011 Am J Hum Genet 12:241-52  cln4.004
cln4.002 Exon 3 c.344T>G p.Leu115Arg Missense Benign Kufs GROD, FP 1 USA 21820099 Noskova et al 2011 Am J Hum Genet 12:241-52  cln4.006
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