Gene Symbol CLN2/TPP1
Gene ID 1200
Chromosomal Location 11p15
Genomic RefSeqGene NG_008653.1 13696 bp
Transcript RefSeq NM_000391.3 3540 bp
Protein RefSeq NP_000382.3 563 aa
No. of mutations 121
No. of sequence variations 24
No. of changes 145
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
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 17 Germany 10330339   12376936 Sleat et al., Am J Hum Genet; 1999, Steinfeld et al., Am J Med Genet, 2002 Pa-cln2.018, Pa-cln2.089-092, 094-104, 110
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 2 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.019, Pa-cln2.062
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 3 Mexico 10330339     9788728 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.020, Pa-cln2.059
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 2 England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.031, Pa-cln2.050
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 5 Canada 10330339     12414822      21990111 Sleat et al., Am J Hum Genet; 1999, Ju et al., J Med Genet., 2002, ?? Pa-cln2.032, Pa-cln2.116-119
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 4 Canada 21990111 Kousi et al., Hum Mut; 2012 263, 267-269
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 England / Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.033
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Germany / Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.034
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 German-Czech/Canadian-North American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.035
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Denmark 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.036
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Northern Europe 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.037
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 England / Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.038
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 2 England-Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.039, Pa-cln2.042
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 England-Ireland-American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.040
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 French-Irish-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.041
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Poland/Sweden-France-Bohemian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.052
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Poland-Germany/Norway 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.053
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Poland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.054
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Norway-Germany-Poland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.055
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 2 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.056
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Italy 11071145 Simonati et al., Neuropediatrics, 2000 Pa-cln2.082
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 England-Germany/Hungary-Poland-Russia 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.057
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Poland-Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.058
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 England / Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.060
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution (JNCL) 1 Germany-Ireland-Poland-England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.061
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 7 USA  11339651      9788728 Zhong et al., 1998a, Zhong et al., 2000 Pa-cln2.004-007, 012, Pa-cln2.075, 076
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet; 1999 Pa-cln2.295
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 European / Native American 10665500 Berry-Kravis et al., Ann Neurol, 2000 Pa-cln2.083
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 3 Russia 12363103 Lavrov et al., Eur J Paed Neurol; 2002 Pa-cln2.131-133
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.279
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Czech Republic 18283468 Elleder et al., Acta Neuropathol, 2008 Pa-cln2.165
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 6 Argentina 19793312 Kohan et al., Clin Genet, 2009 Pa-cln2.171, Pa-cln2.237, 344, 346, 359, 360
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 2 Portugal 12796825 Teixeira et al.,J Neurol, 2003 Pa-cln2.134-135
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 3 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.155-157, 160, 161
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Portugal 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.182
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 5 Slovakia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.183, 185, 187, 188, 198
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 7 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.184, 189, 190, 191, 193, 195, 196
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Brazil 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.192
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Hungary 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.197
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 5 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.199, 241, 242, 243, 259
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 10 UK 21990111 Kousi et al., Hum Mut; 2012; R. Williams pers comm Pa-cln2.205, 206, 214, 219, 225, 229, 231, 233, 234, 364
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 South Africa / The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.251
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Sweden 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.252
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 6 Netherlands 21990111 Kousi et al., Hum Mut; 2012; Sun et al Hum Mutat 2013 Pa-cln2.253, 260, 329, 331, 333, 334, 355-336
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Hungary 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.261
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 China 22245569 Chang et al., 2012, Brain Dev Pa-cln2.314
cln2.001 Exon 6 c.622C>T p.Arg208* Substitution 1 Slavic, Irish, German 21940688 Minh et al, 2012,  J Child Neurol 27:234-7 Pa-cln2.317
cln2.002 Exon 9 c.1093T>C p.Cys365Arg Substitution Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.066
cln2.003 Exon 9 c.1094G>A p.Cys365Tyr Substitution Probably damaging 3 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.046, Pa-cln2.067, 068
cln2.003 Exon 9 c.1094G>A p.Cys365Tyr Substitution Probably damaging 1 Ireland 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.288
cln2.003 Exon 9 c.1094G>A p.Cys365Tyr Substitution Probably damaging 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.230
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Spanish/French/English/ Irish/American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.014 originally described as g.3556G>C
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Irish/American Indian-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.015
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 3 England / Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.021, Pa-cln2.-038, Pa-cln2.043
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 England / Dutch 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.022
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 2 German / English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.023-024
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 England / Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.025
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Swedish-English-Irish/Scottish-Irish-Norwegian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.026
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 14 Germany 10330339              12376936 Sleat et al., Am J Hum Genet; 1999, Steinfeld et al., Am J Med Genet, 2002 Pa-cln2.027, Pa-cln2.089, 093, 095-100, 103-107
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Scotland-Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.028
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 England-Ireland / England-Sweden 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.029
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 English-Irish / German-Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.030
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.031
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 9 Canada 10330339       12414822         21990111 Sleat et al., Am J Hum Genet; 1999, Ju et al., J Med Genet., 2002, Kousi et al, Hum Mutat, 2012 Pa-cln2.032, Pa-cln2.111-116, 267-268
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 England / Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.033
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Germany / Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.034
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 German-Czech/Canadian-North American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.035
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 2 Denmark 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.036, Pa-cln2.048
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Northern Europe 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.037
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 2 England-Ireland-Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.039, Pa-cln2.042
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 England-Ireland-American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.040
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 French-Irish-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.041
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 France / Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.044
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Finnish-Swedish-Norwegian/English-Scottish 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.045
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 2 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.046-047
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 French-German-Irish-Scottish-English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.049
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Czech-Ukranian-Welsh 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.050
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 14 USA  11339651            9788728 Zhong et al., 1998a, Zhong et al., 2000 Pa-cln2.002-003, 005--111, Pa-cln2.077-081
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.294
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Scotland-Ireland-England 10356316 Hartikainen et al., Mol Genet Metab;1999 Pa-cln2.073
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 European / Native American 10665500 Berry-Kravis et al., Ann Neurol, 2000 Pa-cln2.083
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 6 Netherlands ashg.org/genetics/abstracts/abs99/f1307.htm Franken et al., Hum Genet 65 suppl A232,1999    Pa-cln2.302-307
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 4 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.150-153
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Ireland 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.277
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.186
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Slovakia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.198
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 28 UK 21990111 Kousi et al., Hum Mut; 2012; R. Williams pers comm Pa-cln2.203-204, 206, 207-208, 209-213, 215-218, 220-227, 231-232, 235, 366, 367, 368
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Serbia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.246
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 11 The Netherlands 21990111 Kousi et al., Hum Mut; 2012; Sun et al Hum Mutat 2013 Pa-cln2.247, 255, 318-324, 326-327, 329, 333-334
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 2 Sweden 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.248, 262
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 South Africa 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.249
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Belgium 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.250
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 South Africa / The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.251
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.258
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.254
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Slavic, Irish, German 21940688 Minh et al 2012  J Child Neurol 27:234-7 Pa-cln2.317
cln2.004 Intron 5 c.509-1G>C splice defect / Frameshift Substitution 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.347
cln2.005 Exon 6 c.524G>A p.Arg175His Substitution Sequence variant 19 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.089-107, 109-110 19/20
cln2.005 Exon 6 c.524G>A p.Arg175His Substitution Sequence variant n.a. USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.308-309
cln2.006 Exon 11 c.1340G>A p.Arg447His Substitution Probably damaging 1 French-German-Irish-Scottish-English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.049
cln2.006 Exon 11 c.1340G>A p.Arg447His Substitution Probably damaging 1 Germany-Ireland-Poland-England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.061
cln2.006 Exon 11 c.1340G>A p.Arg447His Substitution Probably damaging 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.361
cln2.006 Exon 11 c.1340G>A p.(Arg447His) Substitution Probably damaging late infantile CL (endothelium) 1 Italy 26143525 R di Giacopo et al. 2015 J. Neurol. Sci. Pa-cln2.369; Pa-cln2.370; Pa-cln2.371 sibs with cognitive and progressive motor impairment; dystonia–parkinsonism, cognitive impairment, gait ataxia and apraxia, and pyramidal signs; no epilepsy or visual damage
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171Thrfs*5 Substitution 1 England / Scotland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.021
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171Thrfs*5 Substitution 1 England / Dutch 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.022
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171Thrfs*5 Substitution 1 German / English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.023
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171Thrfs*5 Substitution 1 Scotland-Ireland-England 10356316 Hartikainen et al., Mol Genet Metab;1999 Pa-cln2.173
cln2.007 Intron 5 c.509-1G>A splice defect / p.Gly171Thrfs*5 Substitution 1 Lebanon 10356316 Hartikainen et al., Mol Genet Metab;1999 Pa-cln2.174
cln2.008  Exon 8 c.888_1066del p.His298Leufs*3 Deletion 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.283
cln2.009 Exon 13 c.2810G/C  3'UTR Substitution Sequence variant 9653647 Liu et al., 1998, Genomics 50:206-212 at n.t 2843 in original descrption
cln2.010 Exon 3 c.196C>T p.Gln66* Substitution 1 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.013
cln2.010 Exon 3 c.196C>T p.Gln66* Substitution 5 Argentina 19793312   23266810  Kohan et al, Clin Genet, 2009, Kohan et al., 2013, Gene 516:114-21 Pa-cln2.168-170, Pa-cln2.310, Pa-cln2.349, 350, 351 Also Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005
cln2.010 Exon 3 c.196C>T p.Gln66* Substitution 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.274
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Substitution 1 Spanish/French/English/ Irish/American Indian 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.014
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Substitution n.a. The Netherlands 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.275
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Substitution 1 The Netherlands 23418007 Sun et al., Hum Mutat, 2013 Pa-cln2.335-336
cln2.011 Exon 3 c.225A>G p.Gln75Gln / splice defect Substitution 1 Romania 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.258
cln2.012 Exon 3 c.229G>A p.Gly77Arg Substitution Probably damaging 1 Irish/American Indian-German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.015
cln2.012 Exon 3 c.229G>A p.Gly77Arg Substitution Probably damaging 3 Italy 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.200-202
cln2.013 Exon 4 c.377_387delTCCGACAAGCA p.Ile126Argfs*8 Deletion       1 German 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.018
cln2.013 Exon 4 c.377_387delTCCGACAAGCA p.Ile126Argfs*8 Deletion 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.019
cln2.014 Exon 4 c.379C>T p.Arg127* Substitution 1 Mexico 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.020
cln2.014 Exon 4 c.379C>T p.Arg127* Substitution 1 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.256
cln2.015 Exon 7 c.860T>A p.Ile287Asn Substitution Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.063
cln2.016 Intron 7 c.887-18A>G splice defect / Frameshift; p.Gly296delinsGlyLysLysLysAsnProGly Substitution 1 England / Scottland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.043
cln2.017 Exon 8 c.972_979delCTATGGAG p.Ser324Argfs*2 Deletion 1 France / Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.044
cln2.017 Exon 8 c.972_979delCTATGGAG p.Ser324Argfs*2 Deletion 1 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.064
cln2.018 Exon 8 c.1027G>A p.Glu343Lys Substitution Probably damaging 1 Finnish-Swedish-Norwegian/English-Scottish 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.045
cln2.018 Exon 8 c.1027G>A p.Glu343Lys Substitution Probably damaging 1 England 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.065
cln2.019 Intron 8 c.1075+2T>G splice defect / Frameshift Substitution 1 Italy 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.056
cln2.020 Exon 10 c.1154T>A p.Val385Asp Substitution Probably damaging 1 England-Germany/Hungary-Poland-Russia 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.057
cln2.021 Exon 10 c.1166G>A p.Gly389Glu Substitution Probably damaging 2 Romany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.016-017
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 German / English 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.023
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.047
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 Denmark 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.048
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 Poland-Germany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.058
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 Mexico 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.059
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 England / Ireland 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.060
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 Spain 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.069
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 1 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.107
cln2.022 Exon 10 c.1266G>C p.Gln422His Substitution Probably damaging 2 Netherlands 21990111 Kousi et al., Hum Mut; 2012; Sun et al Hum Mutat 2013 Pa-cln2.253, 331
cln2.023 Exon 11 c.1361C>A p.Ala454Glu Substitution Probably damaging 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.068
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Czech-Ukranian-Welsh 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.050
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.289
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.186
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Hungary 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.197
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.244
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Sweden 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.252
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Chile 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.353
cln2.024 Exon 11 c.1424C>T p.Ser475Leu Substitution Probably damaging 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.361
cln2.025 Intron 12 c.1552-1G>C splice defect / frameshift Substitution 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.062
cln2.025 Intron 12 c.1552-1G>C splice defect / frameshift Substitution 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.130
cln2.026 Exon 13 c.1595dupA p.Gln534Profs*74 Insertion 1 n.a. 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.066
cln2.027 Exon 13 c.1678_1679delCT p.Leu560Thrfs*47 Deletion 1 Romania/Canada 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.070
cln2.027 Exon 13 c.1678_1679delCT p.Leu560Thrfs*47 Deletion 1 Romania 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.258
cln2.027 Exon 13 c.1678_1679delCT p.Leu560Thrfs*47 Deletion 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.293
cln2.032 Intron 2 c.90-44C>T Substitution Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 1767C>T
cln2.032 Intron 2 c.90-44C>T Substitution Sequence variant 1 Italy 10862088 Tessa et a., Hum Mut; 2000 Pa-cln2.086
cln2.033 Exon 4 c.299A>G p.Gln100Arg Substitution Sequence variant 2 Romany 10330339 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.016-017 originally described as 3004A>G
cln2.033 Exon 4 c.299A>G p.Gln100Arg Substitution Sequence variant 1 Italy 10862088 Tessa et al., Hum Mutat, 2000 Pa-cln2.085
cln2.033 Exon 4 c.299A>G p.Gln100Arg Substitution Sequence variant 1 Canada 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.271
cln2.034 Intron 5 c.508+26T>A Substitution Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 3436A>T
cln2.035 Intron 6 c.687+32T>C Substitution Sequence variant 10330339   19793310 Sleat et al., Am J Hum Genet; 1999, Kohan et al., 2009 Pa-cln2.174 originally described as 3767T>C
cln2.036 Intron 9 c.1146-127C>G Substitution Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5044C>G
cln2.037 Intron 10 c.1266+5G>A Substitution Sequence variant 1 Canada 10330339     21990111 Sleat et al., Am J Hum Genet; 1999 Pa-cln2.271 originally described as 5276G>A
cln2.038 Intron 11 c.1425+122T>C Substitution Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5644T>C
cln2.039 Intron 11 c.1425+136A>G Substitution Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5658A>G
cln2.040 Exon 12 c.1542A>T No amino acid change  Substitution Sequence variant 10330339 Sleat et al., Am J Hum Genet; 1999 originally described as 5837A>T
cln2.041 Exon 6 c.616C>T p.Arg206Cys Substitution Probably damaging 1 Turkey 10665500 Berry-Kravis et al., Ann Neurol, 2000 Pa-cln2.084
cln2.043 Exon 5 c.457T>C p.Ser153Pro Substitution Probably damaging vJNCL 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.297
cln2.044 Intron 8 c.1076-2A>G splice defect / frameshift Substitution 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.298
cln2.045 Exon 12 c.1525C>T p.Gln509* Substitution 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.296
cln2.045 Exon 12 c.1525C>T p.Gln509* Substitution 2 Italy 10862088 Tessa et al., Hum Mut; 2000 Pa-cln2.085-087
cln2.045 Exon 12 c.1525C>T p.Gln509* Substitution 1 Ireland 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.291
cln2.045 Exon 12 c.1525C>T p.Gln509* Substitution 2 Oman 17690061 Koul et al., J Child Neurol, 2007 Pa-cln2.136-138, Pa-cln2.139-140
cln2.045 Exon 12 c.1525C>T p.Gln509* Substitution 3 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.230, 234, 236
cln2.046 Exon 13 c.1611_1621delCTCTGGTCCTG p.Cys537Trpfs*67 Deletion 1 France ashg.org/genetics/abstracts/abs99/f1287.htm Caillaud et al., Hum Genet 65 suppl A232; 1999 Pa-cln2.299
cln2.047 Exon 8 c.1015C>T p.Arg339Trp Substitution Probably damaging 1 France 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.285
cln2.047 Exon 8 c.1015C>T p.Arg339Trp Substitution Probably damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.292
cln2.048 Exon 13 c.1644G>A p.Trp548* Substitution 1 France 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.276
cln2.049 Exon 6 c.605C>T p.Pro202Leu Substitution Probably damaging 1 African 11589012 Mole et al.,Eur J Pediatr Neurol.,2001 (Logan pers comm) Pa-cln2.301
cln2.050 Intron 4 c.380+55G>A Substitution Sequence variant 1 Turkey 11589012 Mole et al.,Eur J Pediatr Neurol.,2001 (Taschner pers comm) Pa-cln2.302
cln2.051 Exon 4 c.357dupT p.Leu120Serfs*18 Insertion 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.080
cln2.052 Exon 4 c.380G>A p.Arg127Gln Substitution Benign 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.081
cln2.052 Exon 4 c.380G>A p.Arg127Gln Substitution Benign 1 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.110
cln2.052 Exon 4 c.380G>A p.Arg127Gln Substitution Benign 1 Canada 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.276
cln2.052 Exon 4 c.380G>A p.Arg127Gln Substitution Benign 1 Turkey 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.238-240
cln2.054 Exon 7 c.851G>T p.Gly284Val Substitution Probably damaging 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.079
cln2.054 Exon 7 c.851G>T p.Gly284Val Substitution Probably damaging 12 Canada  12414822        21990111 Kousi et al., Hum Mut; 2012, Ju et al., J Med Genet., 2002 Pa-cln2.114, Pa-cln2.118-127, 270
cln2.054 Exon 7 c.851G>T p.Gly284Val Substitution Probably damaging 10 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.144-145, 146-149, 155-157, 158, 159, 162-163
cln2.055 = cln2.065 Exon 11 c.1284G>T p.Lys428Asn Substitution Benign 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.115
cln2.056 Exon 11 c.1379G>A p.Trp460* Substitution 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.077
cln2.057 Exon 11 c.1417G>A p.Gly473Arg Substitution Probably damaging 1 China 11241479 Lam et al.,Am J Med Genet, 2001 Pa-cln2.088
cln2.057 Exon 11 c.1417G>A p.Gly473Arg Substitution Probably damaging 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.075
cln2.058 Exon 13 c.1630C>T p.Pro544Ser  Substitution Probably damaging LINCL 1 USA 11339651 Zhong et al., Genet Med, 2000 Pa-cln2.078 not p.Ala555Pro as originally published
cln2.059 Exon 3 c.184_185delTC p.Ser62Glyfs*25 Deletion LINCL 1 China 11241479 Lam et al.,Am J Med Genet, 2001 Pa-cln2.088
cln2.060 Exon 8 c.1064T>C p.Leu355Pro Substitution Probably damaging 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.287
cln2.061 Intron 4 c.381-6C>T Substitution Sequence variant n.a. n.a. 21990111 Kousi et al., Hum Mut; 2012
cln2.062 Exon 7 c.713C>G p.Ser238* Substitution 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.281
cln2.063 Exon 7 c.857A>G p.Asn286Ser Substitution Possibly damaging LINCL 2 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.108-109
cln2.064 Exon 8 c.1057A>C p.Thr353Pro Substitution Probably damaging 2 Germany 12376936 Steinfeld et al.,Am J Med Genet.,2002 Pa-cln2.105-106
cln2.066 Exon 12 c.1442T>G p.Phe481Cys Substitution Probably damaging LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.124
cln2.067 Exon 7 c.829G>A p.Val277Met Substitution Probably damaging LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.128
cln2.068 Exon 7 c.833A>C p.Gln278Pro Substitution Probably damaging LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.129
cln2.069 Exon 7 ? uncharacterised 1-bp deletion Deletion LINCL 1 Canada 12414822 Ju et al., J Med Genet., 2002 Pa-cln2.125
cln2.070 Intron 6 c.688-10C>T Substitution Sequence variant 12414822 Ju et al., J Med Genet., 2002
cln2.071 Intron 7 c.886+17T>C Substitution Sequence variant 12414822 Ju et al., J Med Genet., 2002
cln2.072 Intron 7 c.886+41G>C Substitution Sequence variant 12414822 Ju et al., J Med Genet., 2002
cln2.073 Exon 8 c.987_989delGGAinsCTC p.Glu329_Asp330delinsAspSer Deletion-Insertion LINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.282
cln2.074 Exon 7 c.797G>A p.Arg266Gln Substitution Benign LINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 (Milą personal communication) Pa-cln2.179
cln2.075 Exon 6 c.646G>A p.Val216Met Substitution Probably damaging 1 China 20820830 Wang et al, 2011, Neurogenetics epub 7 Sept Pa-cln2.177
cln2.075 Exon 6 c.646G>A p.Val216Met Substitution Probably damaging 1 USA 21990111 Kousi et al., Hum Mut; 2012 (Xin pers comm to NCL Mutation database) Pa-cln2.280 g.3694G>A
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Substitution Sequence variant 3 UK 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.235, 236, 256
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Substitution Sequence variant     1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.272
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Substitution Sequence variant     n.a. Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.273
cln2.076 Intron 2 c.89+5G>C splice defect / frameshift Substitution Sequence variant 2 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.357, 358
cln2.077 Exon 8 c.1016G>A p.Arg339Gln Substitution Probably damaging LINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 (Milą personal communication) Pa-cln2.179 formerly named cln2.74 snce on same allele
cln2.077 Exon 8 c.1016G>A p.Arg339Gln Substitution Probably damaging LINCL 1 Argentina 23266810 Kohan et al., 2013, Gene 516:114-21 Pa-cln2.348
cln2.078 Exon 11 Polymorphism p.Val426Val NA Sequence variant 1 Argentina   Noher de Halac et al.   2005 . In: Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America - an update .  Pa-cln2.310 transiently cln2.076
cln2.079 Intron 7 c.887-10A>G p.Gly296delinsGluAsnProGly Deletion-Insertion intron change vJNCL 6 Argentina 23266810 Noher de Halac, Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America: an update; 2005 Pa-cln2.168-170, Pa-cln2.349, 350, 351, 353, 354
cln2.079 Intron 7 c.887-10A>G p.Gly296delinsGluAsnProGly Deletion-Insertion Intron change JNCL 1 Portugal 17959406 Bessa et al., Mol Genet Metab, 2008 Pa-cln2.164
cln2.079 Intron 7 c.887-10A>G p.Gly296delinsGluAsnProGly Deletion-Insertion Intron change JNCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.180
cln2.080 Exon 12 c.1439T>G p.Val480Gly Substitution Probably damaging Atypical JNCL (het with c.622C>T) 2 Czech Republic 18283468 Elleder et al., Acta Neuropathol, 2008, Kousi et al., Hum Mut; 2012 Pa-cln2.165, Pa-cln2.290
cln2.081 Exon 7 c.775delC p.Arg259Valfs*17 Deletion LINCL 1 Israel-Arab 19748052 Goldberg-Stern et al., Paed Neurol; 2009 Pa-cln2.175-176
cln2.082 Exon 11 c.1424delC p.Ser475Trpfs*13 Deletion 2 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.141-142, Pa-cln2.143
cln2.082 Exon 11 c.1424delC p.Ser475Trpfs*13 Deletion 1 USA 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.264
cln2.083 Exon 4 c.311T>A p.Leu104* Substitution LINCL 3 Argentina 20960655               19793312 23266810 Kohan et al., Human Genet, 2008,   Kohan et al Clin Genet, 2009, Kohan et al., 2013, Gene 516:114-21 Pa-cln2.134, Pa-cln2.174, Pa-cln2.340, 342
cln2.083 Exon 4 c.311T>A p.Leu104* Substitution LINCL 1 Newfoundland 18684116 Moore et al., Clin Genet, 2008 Pa-cln2.154
cln2.084 Intron 1 c.17+1G>C splice defect Substitution vLINCL 1 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln2.166
cln2.084 Intron 1 c.17+1G>C splice defect Substitution vLINCL 1 Spain 21990111 Kousi et al., Hum Mut; 2012 (Milą personal communication) Pa-cln2.178
cln2.085 Exon 10 c.1204G>T p.Glu402* Substitution 1 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln2.167
cln2.086 Exon 12 c.1444G>C p.Gly482Arg Substitution Probably damaging vLINCL 1 Turkey 19201763 Kousi et al., Brain, 2009 Pa-cln2.168
cln2.087 Exon 4 c.237C>G p.Tyr79* Substitution LINCL 1 Czech Republic 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.184
cln2.088 Exon 13 c.1642T>C p.Trp548Arg Substitution Probably damaging 1 Slovakia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.194
cln2.089 Exon 7 c.827A>T p.Asp276Val Substitution Probably damaging 14 Argentina 23266810 Kohan et al., Clin Genet, 2009; Kohan et al., 2013, Gene 516:114-21 Pa-cln2.171-173, Pa-cln2.337, 338, 339, 340, 341, 343, 344, 345, 347, 352, 354
cln2.090 Exon 11 c.1358C>T p.Ala453Val Substitution Probably damaging LINCL 3 Argentina 23266810 Kohan et al., Clin Genet, 2009; Kohan et al., 2013, Gene 516:114-21 Pa-cln2.174, Pa.cln2.340, 341
cln2.091 Exon 6 c.617G>A p.Arg206His Substitution Probably damaging 1 Russia 21990111 Kousi et al., Hum Mut; 2012 Pa-cln2.278
cln2.092 Exon 7 c.843G>T p.Met281Ile Substitution