Gene
Symbol |
CLN5 |
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Gene
ID |
1203 |
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Chromosomal
Location |
13q21.1-32 |
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Genomic
RefSeqGene |
NG_009064.1 |
17594 bp |
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Transcript RefSeq |
NM_006493 |
2816 bp |
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Protein
RefSeq |
5729772 |
407 aa |
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No. of mutations |
37 |
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No. of sequence
variations |
9 |
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Total
No. of changes |
46 |
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Additional
notes |
cln5.031& cln5.036
not assigned |
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Two siblings have not had
their mutations characterised (Shetty et al) |
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Identifier |
Location |
cDNA change |
RNA change |
Genomic DNA change hg19 |
dbSNP |
Amino acid change |
Type of mutation |
Predicted functional effect |
NCL Phenotype or other disease |
Histology |
No. of families |
Country of origin |
PMID |
References |
PMID 2 |
Patients |
Notes |
cln5.002 |
B: Exon 1 |
c.225G>A |
r.(225g>a) |
g.77566311G>A |
rs104894385, CM980371 |
p.(Trp75*) |
substitution |
|
late infantile |
|
1 |
Sweden |
20157158 |
Xin et al., Neurology, 2010, also Holmberg et al.,
Neurology 2000 |
10953198 |
Pa-cln5.043 |
|
cln5.002 |
B: Exon 1 |
c.225G>A |
r.(225g>a) |
g.77566311G>A |
rs104894385, CM980371 |
p.(Trp75*) |
substitution |
|
late infantile |
|
1 |
Finland |
9662406 |
Savukoski et al., Nature Genet, 1998 |
|
Pa-cln5.019 |
|
cln5.002 |
B: Exon 1 |
c.225G>A |
r.(225g>a) |
g.77566311G>A |
rs104894385, CM980371 |
p.(Trp75*) |
substitution |
|
late infantile |
|
1 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.073 |
|
cln5.012 |
B: Exon 1 |
c.4C>T |
r.(4c>u) |
g.77566090C>T |
rs77416795 |
p.(Arg2Cys) |
substitution |
sequence variant |
late infantile |
|
6 |
Argentina |
1990111 |
Kousi et al., Hum Mut; 2012, also Xin et al
Neurology 2010 |
20157158 |
|
|
cln5.012 |
B: Exon 1 |
c.4C>T |
r.(4c>u) |
g.77566090C>T |
rs77416795 |
p.(Arg2Cys) |
substitution |
sequence variant |
late infantile |
|
13 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.053, 054-060, Pa-cln6-064, 105,
Pa-cln7.009, 059, 006 |
|
cln5.012 |
B: Exon 1 |
c.4C>T |
r.(4c>u) |
g.77566090C>T |
rs77416795 |
p.(Arg2Cys) |
substitution |
sequence variant |
late infantile |
|
1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.049 |
|
cln5.012 |
B: Exon 1 |
c.4C>T |
r.(4c>u) |
g.77566090C>T |
rs77416795 |
p.(Arg2Cys) |
substitution |
sequence variant |
late infantile |
|
1 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.076, 081 |
|
cln5.012 |
B: Exon 1 |
c.4C>T |
r.(4c>u) |
g.77566090C>T |
rs77416795 |
p.(Arg2Cys) |
substitution |
sequence variant |
late infantile |
|
n.a. |
Czech Republic |
21990111 |
Kousi et al., Hum Mut; 2012 |
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cln5.019 |
B: Exon 1 |
c.291dupC |
r.(291dup) |
g.77566377dup |
HI070015 |
p.(Ser98Leufs*13) |
duplication |
|
congenital |
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1 |
Argentina |
20960661 |
Cismondi et al., Hum Genet, 2008 |
|
Pa-cln5.030 |
|
cln5.023 |
B: Exon 1 |
c.72A>G |
r.(72a>g) |
g.77566158A>G |
rs7987664 |
p.(=) |
substitution |
sequence variant |
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2 |
USA,
Argentina |
20157158 |
Xin et al., Neurology, 2010, Kousi et al., Hum Mut;
2011 |
21990111 |
Pa-cln5.041 |
|
cln5.024 |
B: Exon 1 |
c.234C>G |
r.(234c>g) |
g.77566320C>G |
rsS138037471 |
p.(=) |
substitution |
sequence variant |
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1=0.5% chr |
USA |
20157158 |
Xin et al., Neurology, 2010 |
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cln5.038 |
B: Exon 1 |
c.61C>T |
r.(61c>u) |
g.77566147C>T |
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p.(Pro21Ser) |
substitution |
Possibly damaging |
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1 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.061 |
|
cln5.038 |
B: Exon 1 |
c.61C>T |
r.(61c>u) |
g.77566147C>T |
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p.(Pro21Ser) |
substitution |
Possibly damaging |
congenital |
GROD, CL, FP (lymphocytes and skin) |
1 |
|
22727047 |
Staropoli et al 2012 BMC Med Genet. 13:50 |
|
Pa-cln5.084 |
also found as an isolated change in a teenage boy
with progressive neurological decline |
cln5.038 |
B: Exon 1 |
c.61C>T |
r.(61c>u) |
g.77566147C>T |
|
p.(Pro21Ser) |
substitution |
Possibly damaging |
Spinocerebellar ataxia |
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1 |
Brazil |
|
L Jardim (pers comm) |
|
Pa-cln5.091 |
2 sibs |
cln5.039 |
B: Exon 1 |
c.223T>C |
r.(223u>c) |
g.77566309T>C |
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p.(Trp75Arg) |
substitution |
Probably damaging |
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3 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
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Pa-cln5.060 |
|
cln5.006 |
C: Exon 2 |
c.335G>A |
r.(335g>a) |
g.77569212G>A |
rs104894386 |
p.(Arg112His) |
substitution |
Probably damaging |
juvenile |
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1 |
Colombia |
15728307 |
Pineda-Trujillo et al., Neurology; 2005 |
|
Pa-cln5.022-023 |
|
cln5.006 |
C: Exon 2 |
c.335G>A |
r.(335g>a) |
g.77569212G>A |
rs104894386 |
p.(Arg112His) |
substitution |
Probably damaging |
juvenile |
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1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.051 |
|
cln5.008 |
C: Exon 2 |
c.335G>C |
r.(335g>c) |
g.77569212G>C |
CM050199 |
p.(Arg112Pro) |
substitution |
Probably damaging |
late infantile |
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1 |
Portugal |
16814585 |
Bessa et al., Mol Genet Metab, 2006 |
|
Pa-cln5.024 |
Found on same maternal allele as p.Asp279Asn |
cln5.021 |
C: Exon 2 |
c.377G>A |
r.(377g>a) |
g.77569254G>A |
CM063906 |
p.(Cys126Tyr) |
substitution |
Probably damaging |
adult |
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1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.040 |
|
cln5.040 |
C: Exon 2 |
c.433C>T |
r.(433c>u) |
g.77569310C>T |
COSM196447 |
p.(Arg145*) |
substitution |
|
NA |
|
1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.052 |
|
cln5.005 |
D: Exon 3 |
c.669dupC |
r.(669dup) |
g.77570219dup |
CI003728 |
p.(Trp224Leufs*30) |
duplication |
|
late infantile |
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1 |
Sweden |
20157158 |
Xin et al., Neurology, 2010, Holmberg et al.,
Neurology, 2000 |
10953198 |
Pa-cln5.043 |
classic in combination with Y392X |
cln5.005 |
D: Exon 3 |
c.669dupC |
r.(669dup) |
g.77570219dup |
CI003728 |
p.(Trp224Leufs*30) |
duplication |
|
late infantile |
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1 |
Finland |
10953198 |
Holmberg et al., Neurology, 2000 |
|
Pa-cln5.021 |
mild in
combination with Y75X |
cln5.005 |
D: Exon 3 |
c.669dupC |
r.(669dup) |
g.77570219dup |
CI003728 |
p.(Trp224Leufs*30) |
duplication |
|
NA |
|
1 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.073 |
|
cln5.007 |
D: Exon 3 |
c.565C>T |
r.(565c>u) |
g.77570115C>T |
CM063905 |
p.(Gln189*) |
substitution |
|
late infantile |
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1 |
Portugal |
16814585 |
Bessa et al., Mol Genet Metab, 2006 |
|
Pa-cln5.024 |
|
cln5.009 |
D: Exon 3 |
c.671G>A |
r.(671g>a) |
g.77570221G>A |
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p.(Trp224*) |
substitution |
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2 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.038, Pa-cln5.039 |
|
cln5.009 |
D: Exon 3 |
c.671G>A |
r.(671g>a) |
g.77570221G>A |
|
p.(Trp224*) |
substitution |
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1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.048 |
|
cln5.015 |
D: Exon 3 |
c.619T>C |
r.(619u>c) |
g.77570169T>C |
rs147065248 |
p.(Trp207Arg) |
substitution |
Probably damaging |
|
|
1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.051 |
|
cln5.027 |
D: Exon 3 |
c.527_528insA |
r.(527_528insa |
g.77570077_77570078insA |
|
p.(Gly177Trpfs*10) |
insertion |
|
late infantile |
|
1 |
Pakistan / USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.047 |
|
cln5.029 |
D: Exon 3 |
c.575A>G |
r.(575a>g) |
g.77570125A>G |
|
p.(Asn192Ser) |
substitution |
Probably damaging |
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.045 |
|
cln5.030 |
D: Exon 3 |
c.620G>C |
r.(620g>c) |
g.77570170G>C |
|
p.(Trp207Ser) |
substitution |
Probably damaging |
|
|
1 |
China / USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.044 |
|
cln5.042 |
D: Exon 3 |
c.524T>G |
r.(524u>g) |
g.77570074T>G |
|
p.(Leu175*) |
substitution |
|
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|
1 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.067 |
|
cln5.028 |
D: Exon 3 |
c.528T>G |
r.(528u>g) |
g.77570078T>G |
rs34481987 |
p.(=) |
substitution |
sequence variant |
|
|
1 |
Sweden |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.043 |
p.Thr176Thr |
cln5.028 |
D: Exon 3 |
c.528T>G |
r.(528u>g) |
g.77570078T>G |
rs34481987 |
p.(=) |
substitution |
sequence variant |
|
|
|
Argentina |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
|
p.Thr176Thr |
cln5.043 |
D: Exon 3 |
c.593T>C |
r.(593u>c) |
g.77570143T>C |
|
p.(Leu198Pro) |
substitution |
Probably damaging |
|
|
1 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln7.068 |
|
cln5.044 |
D: Exon 3 |
c.613C>T |
r.(613c>u) |
g.77570163C>T |
|
p.(Pro205Ser) |
substitution |
Probably damaging |
|
|
2 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.074, 075 |
|
cln5.044 |
D: Exon 3 |
c.613C>T |
r.(613c>u) |
g.77570163C>T |
|
p.(Pro205Ser) |
substitution |
Probably damaging |
|
|
1 |
Qatar / Yemen |
21447811 |
Al-Kowari et al., 2011 |
|
Pa-cln5.036, 037 |
|
cln5.045 |
D: Exon 3 |
c.486+139_712+2132del |
r.(487_712del) |
g.77569502_77572394del |
|
p.(Lys163Glufs*11) |
deletion |
|
congenital |
GROD, CL, FP (lymphocytes and skin) |
|
|
22727047 |
Staropoli et al 2012 BMC Med Genet. 13:50 |
|
Pa-cln5.084 |
de novo mutation in patient of 2.8 kb del |
cln5.046 |
D: Exon 3 |
c.694C>T |
r.(694c>u) |
g.77570244C>T |
|
p.(Gln232*) |
substitution |
|
|
|
1 |
Serbia |
23160995 |
Haddad et al., 2012 |
|
Pa-cln5.085 |
|
cln5.001 |
E: Exon 4 |
c.1175_1176delAT |
r.(1175_1176del) |
g.77575055_77575056delAT |
|
p.(Tyr392*) |
deletion |
|
late infantile |
|
19 |
Finland |
9662406 |
Savukoski et al., Nature Genet, 1998, Holmberg et
al., Neurology, 2000 |
10953198 |
Pa-cln5.001-18, Pa-cln5.021 |
Finnish major mutation |
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.041 |
A common polymorphisms |
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
n.a. |
Finland |
9662406 |
Savukoski et al., Nature Genet, 1998 |
|
Pa-cln5.019 |
nearly 20% carrier freq in Finland, linked to
FINmin mutation p.Trp75X |
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
n.a. |
Argentina |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
|
|
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
4 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.063, Pa-cln7.066,Pa-cln5- 069-071 |
|
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
5 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.077, 078, 079, 080, 082 |
|
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
1 |
India |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln7.004 |
|
cln5.004 |
E: Exon 4 |
c.1103A>G |
r.(1103a>g) |
g.77574983A>G |
rs1800209 |
p.(Lys368Arg) |
substitution |
sequence variant |
|
|
1 |
NA |
21990111 |
Xin et al., 2010 |
|
Pa-cln4.041 |
|
cln5.003 |
E: Exon 4 |
c.835G>A |
r.(835g>a) |
g.77574715G>A |
rs28940280, CM980372 |
p.(Asp279Asn) |
substitution |
Probably damaging |
late infantile |
|
1 |
The Netherlands |
9662406 |
Savukoski et al., Nature Genet, 1998, Holmberg et
al., Neurology, 2000 |
10953198 |
Pa-cln5.020 |
|
cln5.003 |
E: Exon 4 |
c.835G>A |
r.(835g>a) |
g.77574715G>A |
rs28940280, CM980372 |
p.(Asp279Asn) |
substitution |
Probably damaging |
late infantile |
|
1 |
Portugal |
16814585 |
Bessa et al., Mol Genet Metab, 2006 |
|
Pa-cln5.024 |
Found on same maternal allele as p.Arg112Pro |
cln5.010 |
E: Exon 4 |
c.955_970del16 |
r.(955_970del) |
g.77574835_77574850del16 |
|
p.(Gly319Phefs*12) |
deletion |
|
|
|
1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.048 |
|
cln5.011 |
E: Exon 4 |
c.772T>G |
r.(772u>g) |
g.77574652T>G |
CM076117 |
p.(Tyr258Asp) |
substitution |
Probably damaging |
juvenile |
|
1 |
Italy |
17607606 |
Cannelli et al., Neuropediatrics; 2007 |
|
Pa-cln5.025-026 |
|
cln5.013 |
E: Exon 4 |
c.726C>A |
r.(726c>a) |
g.77574606C>A |
rs138611001 |
p.(Asn242Lys) |
substitution |
SNP at 1.4% in European Americans |
|
|
1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.049 |
|
cln5.013 |
E: Exon 4 |
c.726C>A |
r.(726c>a) |
g.77574606C>A |
rs138611001 |
p.(Asn242Lys) |
substitution |
SNP at 1.4% in European Americans |
|
|
2 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.058, 068 |
|
cln5.013 |
E: Exon 4 |
c.726C>A |
r.(726c>a) |
g.77574606C>A |
rs138611001 |
p.(Pro21Ser) |
substitution |
|
Spinocerebellar ataxia |
|
1 |
Brazil |
|
L Jardim (pers comm) |
|
Pa-cln5.091 |
2 sibs |
cln5.016 |
E: Exon 4 |
c.1026C>A |
r.(1026c>a) |
g.77574906C>A |
|
p.(Tyr342*) |
substitution |
|
|
|
1 |
Czech Republic |
19201763 |
Kousi et al., Brain; 2009 |
|
Pa-cln5.031 |
|
cln5.017 |
E: Exon 4 |
c.1054G>T |
r.(1054g>u |
g.77574934G>T |
rs121908292, CM083489 |
p.(Glu352*) |
substitution |
|
|
|
1 |
Newfoundland / UK |
18684116 |
Moore et al., Clin Genet; 2008 |
|
Pa-cln5.027-028 |
|
cln5.018 |
E: Exon 4 |
c.1137G>T |
r.(1137g>u) |
g.77575017G>T |
CM093057 |
p.(Trp379Cys) |
substitution |
Probably damaging |
|
|
1 |
Afghanistan |
19309691 |
Lebrun et al., Hum Mut; 2009 |
|
Pa-cln5.034-35 |
|
cln5.022 |
E: Exon 4 |
c.1121A>G |
r.(1121a>g) |
g.77575001A>G |
rs148862100 |
p.(Tyr374Cys) |
substitution |
Probably damaging |
adult |
|
2 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.040, Pa-cln5.042 |
Probably milder mutation |
cln5.032 |
E: Exon 4 |
c.907_1094del188 |
r.(907_1094del) |
g.77574787_77574974del188 |
|
p.(Thr303Cysfs*10) |
deletion |
|
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.039 |
|
cln5.032 |
E: Exon 4 |
c.907_1094del188 |
r.(907_1094del) |
g.77574787_77574974del188 |
|
p.(Thr303Cysfs*10) |
deletion |
|
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.042 |
|
cln5.033 |
E: Exon 4 |
c.919delA |
r.(919del) |
g.77574799delA |
|
p.(Arg307Glufs*29 |
deletion |
|
|
|
1 |
Egypt / USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.046 |
|
cln5.033 |
E: Exon 4 |
c.919delA |
r.(919del) |
g.77574799delA |
|
p.(Arg307Glufs*29 |
deletion |
|
|
|
1 |
Egypt |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.083 |
|
cln5.034 |
E: Exon 4 |
c.1071_1072delCT |
r.(1071_1072del) |
g.77574951_77574952delCT |
|
p.(Leu358Alafs*4) |
deletion |
|
|
|
1 |
China /
USA |
20157158 |
Xin et
al., Neurology, 2010 |
|
Pa-cln5.044 |
|
cln5.014 |
E: Exon 4 |
c.1072_1073delTT |
r.(1072_1073del) |
g.77574952_77574953delTT |
CD093058 |
p.(Leu358Alafs*4) |
deletion |
|
|
|
1 |
Pakistan |
19309691 |
Lebrun et al., Hum Mut; 2009 |
|
Pa-cln5.032-33 |
|
cln5.014 |
E: Exon 4 |
c.1072_1073delTT |
r.(1072_1073del) |
g.77574952_77574953delTT |
CD093058 |
p.(Leu358Alafs*4) |
deletion |
|
|
|
1 |
UK |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.050 |
|
cln5.020 |
E: Exon 4 |
c.1103_1106delAACA |
r.(1103_1106del) |
g.77574983_77574986delAACA |
HD070030 |
p.(Lys368Serfs*15) |
deletion |
|
juvenile |
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.038 |
|
cln5.020 |
E: Exon 4 |
c.1103_1106delAACA |
r.(1103_1106del) |
g.77574983_77574986delAACA |
HD070030 |
p.(Lys368Serfs*15) |
deletion |
|
late infantile |
|
1 |
Spain |
20960652 |
Kohan et al., Hum Genet, 2008 |
|
Pa-cln5.029 |
|
cln5.025 |
B: Intron 1 |
c.320+8C>T |
r.(=) |
g.77566414C>T |
rs9565308 |
p.(=) |
substitution |
sequence variant |
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5-041 |
|
cln5.025 |
B:
Intron 1 |
c.320+8C>T |
r.(=) |
g.77566414C>T |
rs9565308 |
p.(=) |
substitution |
sequence variant |
|
|
4 |
Turkey |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.063-066 |
|
cln5.025 |
B:
Intron 1 |
c.320+8C>T |
r.(=) |
g.77566414C>T |
rs9565308 |
p.(=) |
substitution |
sequence variant |
|
|
1 |
Cook Islands |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln7.055 |
|
cln5.025 |
B:
Intron 1 |
c.320+8C>T |
r.(=) |
g.77566414C>T |
rs9565308 |
p.(=) |
substitution |
sequence variant |
|
|
4 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.077, 079, 080, 082 |
|
cln5.026 |
B:
Intron 1 |
c.320+18C>T |
r.(=) |
g.77566424C>T |
rs112141862 |
p.(=) |
substitution |
sequence variant |
|
|
n.a. |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.041 |
|
cln5.041 |
B:
Intron 1 |
c.486+5G>C |
r.spl? |
g.77569368G>C |
|
p.? |
substitution |
sequence variant |
|
|
1 |
Canada |
21990111 |
Kousi et al., Hum Mut; 2012 |
|
Pa-cln5.076 |
|
cln5.035 |
E: Exon 4 |
c.1083delT |
r.(1083del) |
g.77574963delT |
|
p.(Phe361Leufs*4) |
deletion |
|
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5-041 |
|
cln5.037 |
3' UTR |
c.*33A>G |
r.(1224+33a>g) |
g.77575137A>G |
rs9573974 |
p.(=) |
substitution |
sequence variant |
|
|
1 |
USA |
20157158 |
Xin et al., Neurology, 2010 |
|
Pa-cln5.041 |
formerly c.1224+33A>G |
cln5.047 |
E: Exon 4 |
c.935G>A |
r.(935g>a) |
|
|
p.(Ser312Asn) |
substitution |
|
|
|
1 |
Italy |
25359263 |
Mancini et al, J Neurol 2015 |
|
Pa-cln5.088-089 |
|
|
? |
? |
|
|
|
|
|
|
|
|
1 |
Pakistan |
24082928 |
Setty et al. J. Pediatr Neurosci. 2013 |
|
Pa-cln5.086-087 |
Mutation in two siblings not described in this
paper |
cln5.048 |
|
c.741_747delinsTT |
|
|
|
p.(Trp247Cysfs*5) |
deletion-insertion |
|
late infantile |
|
1 |
Middle East |
|
Williams (pers comm) |
|
Pa-cln5.090 |
Premature termination |
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Notes |
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Recommended
mutation nomenclature followed
(http://varnomen.hgvs.org/recommendations/general/) |
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Polyphen
and/or SIFT used to predict functional effects |
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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 |
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GROD -
Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP -
Fingerprint, condensed |
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See dbSNP
for more short genetic variations |
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cln5.020=cln2.036 |
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Last updated |
28-Nov-17 |
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