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

71[1]

No. of sequence variations

9

No. of changes

80[2]

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

Kälviäinen 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