Gene Symbol CLN1/PPT1
Gene ID 5538
Chromosomal Location 1p32
Genomic RefSeqGene NG_009192.1 31761 bp
Transcript RefSeq NM_000310.3 2504 bp
Protein RefSeq NP_000301.1 306 aa
No. of mutations 67
No. of sequence variations 9
No. of changes 76
Additional Notes 2 mutation IDs no longer in use: 032 and 054
Identifier Location cDNA change RNA change Genomic DNA change hg19 dbSNP Protein change Type of mutation Predicted functional effect Phenotype Histology No. of families Country of origin PMID Reference Patients Notes
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging INCL 42 Finland 7637805 Vesa et al. Nature 376:584-587 1995 Pa-cln1.001-042 Finnish major mutation. Mutation leads to intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain of patients.
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging (JNCL) 1 Finland 17388982 KŠlviŠinen et al.   Eur J Neurol 14: 369-372 2007  Pa-cln1.130
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rsS137852695, CM950975 p.(Arg122Trp) Missense Probably damaging INCL 3  USA 9664077  Das et al. J Clin Invest 102:361-370 1998 Pa-cln1.062, 071, 074 Das et al. Hum Mol Genet 110:1431-1439 2001, van Diggelen pers comm 2003 
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging INCL 1  USA 21990111 Kousi et al.,Hum Mutat 33: 42-63 2012 Pa-cln1.154
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging INCL (JNCL) 1 Estonia 7637805 Vesa et al. Nature 376:584-587 1995  Pa-cln1.044
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging INCL 1 Sweden 7637805 Vesa et al. Nature 376:584-587 1995 Pa-cln1.046
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging INCL 2 Germany 7637805 Vesa et al. Nature 376:584-587 1995 Pa-cln1.043, Pa-cln1.045
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging 1 UK 21990111 Kousi et al.,Hum Mutat 33: 42-63 2012 Pa-cln1.165
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rsS137852695, CM950975 p.(Arg122Trp) Missense Probably damaging 1 Finland 21990111 Kousi et al.,Hum Mutat 33: 42-63 2012 Pa-cln1.190
cln1.001 E: Exon 4 c.364A>T r.(364a>u) g.40557070T>A rs137852695, CM950975 p.(Arg122Trp) Missense Probably damaging 1 Sweden 21990111 Kousi et al.,Hum Mutat 33: 42-63 2012 Pa-cln1.191
cln1.002 C: Exon 2 c.163A>T r.(364a>u) g.40558141T>A CM950974 p.(Lys55*) Nonsense INCL 1 UK 7637805 Vesa et al. Nature 376:584-587 1995 Pa-cln1.047