Gene Symbol | CLN3 | |||||||||||||||
Gene ID | 1201 | |||||||||||||||
Chromosomal Location | 16p12.1 | |||||||||||||||
Genomic RefSeqGene | NG_008654.2 | 32641 bp | ||||||||||||||
Transcript RefSeq | NM_001042432.1 | 1915 bp | NM_000086.2 | 1879 bp | ||||||||||||
Protein RefSeq | NP_001035897.1 | 438 aa | NP_000077.1 | 438 aa | ||||||||||||
No. of mutations | 78 | |||||||||||||||
No. of sequence variations | 13 | |||||||||||||||
Total No. of changes | 91 | |||||||||||||||
Additional notes | ||||||||||||||||
Identifier | Mutation 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 | References | Patients | Notes |
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 151 | Multiple | 7553855, 9311735 | The International Batten Disease Consortium, 1995 Munroe et al., 1997 | Pa-cln3.001-80, Pa-cln3.081-139, Pa-cln3.178-190, | There may be some overlap of families between these groups, p.Gly154_Ser438delinsGluGlyArgLeuGlyTrpLeuArgCys or 1 kb deletion; c.461-280_677+382del | |||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 35 | Morocco, The Netherlands, UK, USA, Sweden, Denmark, Italy, Finland, Norway, Germany, Iceland | 9932957 16087292 9311735 10964839 9490299 15991331 10916181 9450775 21990111 | The International Batten Disease Consortium, 1995 Munroe et al., 1997 | Pa-cln3.142-177 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 2 | Finland | 7553855, 9311735, 9932957 | The International Batten Disease Consortium, 1995 Munroe et al., 1997 Lauronen et al., 1999 | Pa-cln3.140, Pa-cln3.141 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 12 | Spain | 21499717 | PŽrez-Poyato et al., 2011, Kousi et al., Hum Mutat, 2012 | Pa-cln3.262-265, Pa-cln3.267-269, Pa-cln3.272 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 6 | Portugal | 12796825 | Texeira et al., J Neurol; 2003 | Pa-cln3.240-247 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 2 | Portugal | 12796825 | Texeira et al., J Neurol; 2003 | Pa-cln3.248-250 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Portugal | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.279 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Newfoundland | 18684116 | Moore et al., Clin Genet, 2008 | Pa-cln3.254-256 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | USA | 15032383 | de los Reyes et al., J Child Neurol, 2004 | Pa-cln3.251 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | USA | 15991331 | Leman et al., 2005 | Pa-cln3.252 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | USA | 16087292 | Kwon et al., 2005 | Pa-cln3.253 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Brazil | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.274 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 3 | Argentina | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.275-277 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 3 | Czech Republic | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.281-283 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.284, 357, 367 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 2 | Italy | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.285-286 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 33 | UK | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.287-321, Pa-cln3.347, 366 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 13 | n.a. | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.324-336, Pa-cln3.339 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 5 | The Netherlands | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.337, Pa-cln3.340-342, Pa-cln3.345 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Belgium | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.360 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Sweden | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.343, 370 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 2 | Canada | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.348-349, Pa-cln3.350 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | France | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.358, Pa-cln3.364 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Germany | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.361 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Ireland | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.362 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Italy | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.363, 365 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 2 | Norway | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.368-369 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 4 | Russia | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.371-374 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | 1 | Albania | N.A. | D. Zafeirou, pes comm | Pa-cln3.403 | ||||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | non-syndromic retinal dystrophy | 4 | UK | 28542676 | Ku et al., 2017 | Pa-cln3.434, 435, 440, 441 | |||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | non-syndromic retinal dystrophy | 1 | USA | 28542676 | Ku et al., 2017 | Pa-cln3.437 | |||
cln3.001 | G: Intron 6 - Intron 8 | c.461-280_677+382del966 | r.[461_677del, 461_790del] | g.28497286_28498251del | CG952287 | p.[Gly154Alafs*29, Val155_Gly264del] | (966 b deletion) | non-syndromic retinal dystrophy | 1 | Canada | 28542676 | Ku et al., 2017 | Pa-cln3.442 | |||
cln3.002 | J: Intron 9 - Intron 13 | c.791-802_1056+1445del2815 | r.(791_1056del) | g.28491981_28494795del2815 | p.(Gly264Valfs*29) | 2.8-kb deletion | 1 | Finland | 9311735, 9932957 | The International Batten Disease Consortium, 1995, Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.140 | 2.8 kb deletion or p.Gly264_Gln352delinsValfsX29 or p.Gly264_Leu437delinsAlaSerAspSerProAlaSerAlaSerArgValAlaGlyThrThrGly | ||||
cln3.003 | Minimum deletion of exon 8-15; maximum deletion of intron 5-15 | c.432+?_1350-?del | r.? | g.28488804_28498805del | CG952289 | 6-kb deletion | 1 | Morocco | 7887419 | Mitchison et al., Am J Hum Genet, 1995 | Pa-cln3.142 | deletion of 6 kb that starts between F2 and F4 and ends between GF1 and R3 primers; i08 - 3' region, unknown 6 kb deletion; Truncated protein | ||||
cln3.004=c.3.043 | H: Intron 7 | c.533+1G>C | r.spl? | g.28497898C>G | CS951380 | p.? | Splice site | 1 | Finland | 7553855, 9311735, 9932957 | The International Batten Disease Cosortium, 1995, Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.141 | 670+1G>C; c.533+1G>C splice defect | |||
cln3.004=c.3.043 | H: Intron 7 | c.533+1G>A | r.spl? | g.28497898C>T | CS052954 | p.? | Splice site | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Sims pers comm to NCL database) | Pa-cln3.383 | c.533+1G>A splice defect | |||
cln3.005 | F: Exon 5 | c.302T>C | r.(302u>c | g.28499055A>G | CM970329 | p.(Leu101Pro) | Missense | Possibly damaging | 1 | The Netherlands | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.143 | |||
cln3.006 | G: Exon 6 | c.378_379dupCC | r.(378_379dupcc) | g.28498856_28498857dup | CI972579 | p.(Arg127Profs*55) | 2-bp insertion | 1 | UK | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.144 | formerly c.374-375insCC in Munroe et al 1997, and described as p.Val128GlyfsX54 in Kousi et al 2012, | |||
cln3.007 | G: Exon 6 | c.424delG | r.(424delg) | g.28498813delC | CD972140 | p.(Val142Leufs*39) | 1-bp deletion | 3 | The Netherlands | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.167-169 | described as p.Val142LeufsX39 in Kousi et al 2012 | |||
cln3.007 | G: Exon 6 | c.424delG | r.(424delg) | g.28498813delC | CD972140 | p.(Val142Leufs*39) | 1-bp deletion | 4 | USA | 9311735, 10964839, 21990111 | Munroe et al., Am J Hum Genet; 1997, Bensaoula et al., 2000, Kousi et al., Hum Mutat, 2012 | Pa-cln3.170-171, Pa-cln3.237 | ||||
cln3.007 | G: Exon 6 | c.424delG | r.(424delg) | g.28498813delC | CD972140 | p.(Val142Leufs*39) | 1-bp deletion | 1 | The Netherlands | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.337 | ||||
cln3.007 | G: Exon 6 | c.424delG | r.(424delg) | g.28498813delC | CD972140 | p.(Val142Leufs*39) | 1-bp deletion | 2 | Belgium | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.338 | ||||
cln3.007 | G: Exon 6 | c.424delG | r.(424delg) | g.28498813delC | CD972140 | p.(Val142Leufs*39) | 1-bp deletion | 1 | n.a. | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.339 | ||||
cln3.008 | G: Intron 6 | c.461-13G>C | r.[=, 461_533del] | g.28497984C>G | CS971664 | p.[=, Val155Profs*2] | Aberrant splicing that removes exon 7 | 1 | USA | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.145 | splice defect (confirmed by RT-PCR). Sometimes aberrant splicing to give truncated protein p.Gly154fsX2; IVS6-13G>C: two transcripts: normal and one with exon 7 missing | |||
cln3.009 | H: Exon 7 | c.482C>G | r.(482c>g) | g.28497950G>C | CM970330 | p.(Ser161*) | Nonsense | 1 | Sweden | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.146 | ||||
cln3.010 | H: Exon 7 | c.485C>G | r.(485c>g) | g.28497947G>C | CM970331 | p.(Ser162*) | Nonsense | 1 | Denmark | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.147 | ||||
cln3.011 | H: Exon 7 | c.509T>C | r.(509u>c) | g.28497923A>G | CM970332 | p.(Leu170Pro) | Missense | Possibly damaging | 1 | UK | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.148-149 | |||
cln3.012 | I: Exon 8 | c.558_559delAG | r.(558_559delag) | g.28497786_28497787delCT | CD972141 | p.(Gly187Aspfs*48) | 2-bp deletion | 1 | Italy | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.172 | ||||
cln3.013 | I: Exon 8 | c.586dupG or c.586-587insG | r.(586dupg) | g.28497759dup | CI972580 | p.(Ala196Glyfs*40) | 1-bp insertion | 1 | UK | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.173 | ||||
cln3.014 | I: Exon 8 | c.631C>T | r.(631c>u) | g.28497714G>A | CM970333 | p.(Gln211*) | Nonsense | 1 | Italy | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.150 | ||||
cln3.015 | L: Exon 11 | c.883G>A | r.(883g>a) | g.28493821C>T | rs121434286, CM970334 | p.(Glu295Lys) | Missense | Possibly damaging | 1 | Finland | The International Batten Disease Cosortium, 1995 9311735 9932957 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.151 | nt 1020G>A | ||
cln3.015 | L: Exon 11 | c.883G>A | r.(883g>a) | g.28493821C>T | rs121434286, CM970334 | p.Glu295Lys | Missense | Possibly damaging | 2 | USA | 9490299 | Zhong et al.,Hum Genet, 1998 | Pa-cln3.221-222 | |||
cln3.015 | L: Exon 11 | c.883G>A | r.(883g>a) | g.28493821C>T | rs121434286, CM970334 | p.Glu295Lys | Missense | Possibly damaging | 1 | German/Dutch | 9450775 | Wisniewski et al., Ann Neurol, 1998 | Pa-cln3.230-231 | |||
cln3.015 | L: Exon 11 | c.883G>A | r.(883g>a) | g.28493821C>T | rs121434286, CM970334 | p.Glu295Lys | Missense | Possibly damaging | CRD at 20y | 1 | China | 24154662 | Wang et al., 2014 | Pa-cln3.417-418 | ||
cln3.016 | M: Exon 12 | c.944dupA | r.(944dupa) | g.28493666dup | CI972581 | p.(His315Glnfs*67) | 1-bp insertion | 2 | Italy | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.174-175 | c.944-945insA | |||
cln3.016 | M: Exon 12 | c.944dupA | r.(944dupa) | g.28493666dup | CI972581 | p.(His315Glnfs*67) | 1-bp insertion | 1 | Iceland | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.176 | c.944-945insA | |||
cln3.016 | M: Exon 12 | c.944dupA | r.(944dupa) | g.28493666dup | CI972581 | p.(His315Glnfs*67) | 1-bp insertion | 1 | USA | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.177 | c.944-945insA | |||
cln3.016 | M: Exon 12 | c.944dupA | r.(944dupa) | g.28493666dup | CI972581 | p.(His315Glnfs*67) | 1-bp insertion | 1 | Italy | 26360874 | Licchetta et al. 2015 | Pa-cln3.424 | ||||
cln3.017 | N: Exon 13 | c.979C>T | r.(979c>u) | g.28493503G>A | CM970335 | p.Gln327X | Nonsense | 1 | Denmark | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.152 | ||||
cln3.018 | N: Exon 13 | c.988G>T | r.(988g>u) | g.28493494C>A | CM970336 | p.Val330Phe | Missense | Possibly damaging | 1 | Norway | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.153 | |||
cln3.019 | N: Exon 13 | c.1000C>T | r.(1000c>u) | g.28493482G>A | CM970338 | p.Arg334Cys | Missense | Possibly damaging | 4 | The Netherlands | 9311735 21990111 | Munroe et al., Am J Hum Genet; 1997, Kousi et al., Hum Mutat, 2012 | Pa-cln3.154-155-156, Pa-cln3.345 | |||
cln3.019 | N: Exon 13 | c.1000C>T | r.(1000c>u) | g.28493482G>A | CM970338 | p.Arg334Cys | Missense | Possibly damaging | 1 | Argentina | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.277 | |||
cln3.020 | N: Exon 13 | c.1001G>A | r.(1001g>a) | g.28493481C>T | CM970337 | p.Arg334His | Missense | Possibly damaging | 1 | Finland | N.A. | The International Batten Disease CosortiumMunroe et al., Am J Hum Genet; 1997 | Pa-cln3.157 | |||
cln3.020 | N: Exon 13 | c.1001G>A | r.(1001g>a) | g.28493481C>T | CM970337 | p.Arg334His | Missense | Possibly damaging | 1 | UK | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.158 | |||
cln3.020 | N: Exon 13 | c.1001G>A | r.(1001g>a) | g.28493481C>T | CM970337 | p.Arg334His | Missense | Possibly damaging | 1 | Germany | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.159 | |||
cln3.020 | N: Exon 13 | c.1001G>A | r.(1001g>a) | g.28493481C>T | CM970337 | p.Arg334His | Missense | Possibly damaging | 1 | USA | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.160 | |||
cln3.020 | N: Exon 13 | c.1001G>A | r.(1001g>a) | g.28493481C>T | CM970337 | p.Arg334His | Missense | Possibly damaging | 1 | Spain | 21499717 | PŽrez-Poyato et al., 2011 | Pa-cln3.273 | |||
cln3.020 | N: Exon 13 | c.1001G>A | r.(1001g>a) | g.28493481C>T | CM970337 | p.Arg334His | Missense | Possibly damaging | 2 | Canada | 21990111 | Kousi et al., Hum Mutat, 2011 | Pa-cln3.351-352 | |||
cln3.021 | N: Exon 13 | c.1054C>T | r.(1054c>u) | g.28493428G>A | CM970339 | p.Gln352X | Nonsense | 3 | The Netherlands | 9311735 21990111 | Munroe et al., Am J Hum Genet; 1997, Kousi et al., Hum Mutat, 2012 | Pa-cln3.161. Pa-cln3.340-341 | ||||
cln3.021 | N: Exon 13 | c.1054C>T | r.(1054c>u) | g.28493428G>A | CM970339 | p.Gln352X | Nonsense | 1 | USA | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.162 | ||||
cln3.021 | N: Exon 13 | c.1054C>T | r.(1054c>u) | g.28493428G>A | CM970339 | p.Gln352X | Nonsense | 1 | France | 21990111 | Kousi et al., Hum Mutat, 2011 | Pa-cln3.358 | ||||
cln3.022 | O: Intron 14 | c.1198-1G>T | r.1198_1202del | g.28488957C>A | CS971665 | p.Thr400* | Splice site | 1 | USA | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.163-165 | splice defect (confirmed by RT-PCR) | |||
cln3.022 | O: Intron 14 | c.1198-1G>T | r.1198_1202del | g.28488957C>A | CS971665 | p.Thr400* | Splice site | 1 | UK | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.389 | splice defect (confirmed by RT-PCR) | |||
cln3.023 | P: Exon 15 | c.1272delG | r.(1272delg) | g.28488882delC | CD972142 | p.(Leu425Serfs*87) | 1-bp deletion | 1 | UK | 9311735 | Munroe et al., Am J Hum Genet; 1997 | Pa-cln3.166 | ||||
cln3.024 | K: Exon 10 | c.831G>A | r.[461_790del, 838_906del] | g.28493953C>T | rs1142183 | p.[Val155_Gly264del, Gly280_Leu302del] | Sequence variant | n.a. | n.a. | 9490299 | Mitchison et al., 1996, Zhong et al Hum Genet 102:57-62 1998 | 66.7% G, 33.3% A; nt 968G>A polymorphism: two
normal RNA splicing alternative isoforms, one spliced-out exons 7, 8, and 9, and second spliced-out exon 11; c.831G>A:p.Val277Val |
||||
cln3.025 | I: Exon 8 | c.622dupT | r.(622dupu) | g.28497723dup | CI983055 | p.(Ser208Phefs*28) | Frameshift, introducing a premature stop codon | 1 | Spain | 21499717 | PŽrez-Poyato et al., J Inherit Metab Dis 2011 | Pa-cln3.266 | Also c.622-623insT; Originally M Milˆ pers comm. | |||
cln3.025 | I: Exon 8 | c.622dupT | r.(622dupu) | g.28497723dup | CI983055 | p.(Ser208Phefs*28) | Frameshift, introducing a premature stop codon | 1 | Spain | 21499717 | PŽrez-Poyato et al., J Inherit Metab Dis 2011 | Pa-cln3.270 | ||||
cln3.025 | I: Exon 8 | c.622dupT | r.(622dupu) | g.28497723dup | CI983055 | p.(Ser208Phefs*28) | Frameshift, introducing a premature stop codon | 1 | Spain | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.278 | ||||
cln3.026 | N: Intron 13 | n.a. | D16S298 microsatellite marker | Sequence variant | n.a. | n.a. | N.A. | Thompson et al. Genomics 13:402-408 1992 Mitchison et al. Genomics 40:346-350 1997 | ||||||||
cln3.027 | J: Intron 9 - Intron 13 | c.791-?_1056-?del, deletion breakpoints not defined | r.791_1056del | g.28493426-?_28493993+?del | CG994841 | p.Gly264Valfs*29 | 2.8 kb deletion where D16S298 not deleted | 3 | Finland | 9932957 | Lauronen et al., Neurology, 1999 | Pa-cln3.192-197 | 2.8-kb genomic deletion of exons 10-13: a truncated protein of 291 amino acids, 28 of which are new; 2.8 kb deletion or p.Gly264_Gln352delinsValfsX29 | |||
cln3.028 | P: Exon 15 | c.1211A>G | r.(1211a>g) | g.28488943T>C | rs77595156 | p.(His404Arg) | Sequence variant | 2 | Sweden, UK | 10916181 | Munroe et al., Am J Hum Genet; 1997, Eksandh et al, Ophthalmic Genet 2000 | Pa-cln3_190, Pa-cln3.235-236 | 10/94 chr Sweden | |||
cln3.028 | P: Exon 15 | c.1211A>G | r.(1211a>g) | g.28488943T>C | rs77595156 | p.(His404Arg) | Sequence variant | 4 | Turkey | 21990111 | Kousi et al., Hum Mutat, 2011 | Pa-cln3.398-402 | ||||
cln3.028 | P: Exon 15 | c.1211A>G | r.(1211a>g) | g.28488943T>C | rs77595156 | p.(His404Arg) | Sequence variant | 3 | Canada | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.354-355-356 | ||||
cln3.029 | I: Exon 8 | c.597C>A | r.(597c>a) | g.28497748G>T | CM011759 | p.(Tyr199*) | Nonsense | Protracted | 1 | Lebanon | 19489875 | Sarpong et al., Clin Genet, 2009 | Pa-cln3.257-261 | |||
cln3.029 | I: Exon 8 | c.597C>A | r.(597c>a) | g.28497748G>T | CM011759 | p.(Tyr199*) | Nonsense | 1 | Italy | 21990111 | Kousi et al., Hum Mutat, 2012, Stone pers comm to Mutation Database | Pa-cln3.385 | ||||
cln3.030 | C: Intron 2 | c.126-1G>A IVS2-1G>A | r.spl? | g.28500708C>T | CS011836 | p.? | Splice site | JNCL | 1 | Turkey | 11589012 | Mole et al.,Eur J Pediatr Neurol.,2001 (Taschner pers comm) | Pa-cln3.394 | |||
cln3.030 | C: Intron 2 | c.126-1G>A | r.spl? | g.28500708C>T | CS011836 | p.? | splice defect | 2 | Turkey | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.322, 395 | ||||
cln3.031 | I: Exon 8 | c.560G>C | r.(560g>c) | g.28497785C>G | CM011758 | p.(Gly187Ala) | Missense | Benign | JNCL | 1 | Spain | 21990111 | Kousi et al., Hum Mutat, 2011 | Pa-cln3.278 | ||
cln3.031 | I: Exon 8 | c.560G>C | r.(560g>c) | g.28497785C>G | CM011758 | p.(Gly187Ala) | Missense | JNCL | 1 | The Netherlands | 11589012 | Mole et al.,Eur J Pediatr Neurol.,2001 (Taschner pers comm) | Pa-cln3.384 | |||
cln3.032 | O: Exon 14 | c.1195G>T | r.(1195g>u) | g.28489060C>A | p.(Glu399*) | 27-bp deletion | JNCL | 1 | Italy | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.286 | ||||
cln3.033 | E: Intron 4 | c.294-58G>A | r.(=) | g.28499970C>T | p.(=) | Sequence variant | 1 | The Netherlands | 11589012 | Mole et al 2001 (Taschner pers comm) | Pa-cln3.398 | orignally IVS4-59G>A | ||||
cln3.034 | E: Intron 4 | c.294-80G>A | r.(=) | g.28499992C>T | p.(=) | Sequence variant | n.a. | n.a. | 11589012 | Mole et al 2001 (Taschner pers comm) | Pa-cln3.399 | originally IVS-81G>A | ||||
cln3.035 | L: Exon 11 | c.883G>T | r.(883g>u) | g.28493821C>A | CM003663 | p.(Glu295*) | nonsense | JNCL | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Zhong pers comm to NCL mutation database) | Pa-cln3.386 | |||
cln3.035 | L: Exon 11 | c.883G>T | r.(883g>u) | g.28493821C>A | CM003663 | p.(Glu295*) | nonsense | non-syndromic retinal dystrophy | 2 | Canada | 28542676 | Ku et al., 2017 | Pa-cln3.438-439 | |||
cln3.036 | C: Exon 2 | c.105G>A | r.(105g>a) | g.28502823C>T | CM052841 | p.(Trp35*) | nonsense | 1 | Germany | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.280 | ||||
cln3.036 | C: Exon 2 | c.105G>A | r.(105g>a) | g.28502823C>T | CM052841 | p.(Trp35*) | nonsense | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.377 | ||||
cln3.037 | F: Exon 5 | c.370dupT | r.(370dupu) | g.28498987dup | CI053015 | p.(Tyr124Leufs*36) | Frameshift, introducing a premature stop codon | 1 | Spain | 21499717 | PŽrez-Poyato et al., J Inherit Metab Dis 2011 | Pa-cln3.273 | ||||
cln3.037 | F: Exon 5 | c.370dupT | r.(370dupu) | g.28498987dup | CI053015 | p.(Tyr124Leufs*36) | Frameshift, introducing a premature stop codon | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Sims pers comm to NCL database) | Pa-cln3.379 | Formerly c.370insT | |||
cln3.038 | H: Exon 7 | c.472G>C | r.(472g>c) | g.28497960C>G | CM052839 | p.(Ala158Pro) | Missense | Possibly damaging | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Sims pers comm to NCL database) | Pa-cln3.382 | |||
cln3.039 | L: Intron 11 | c.906+49del | r.(spl?) | g.28493749del | CG053041 | polymorphism / possible splice defect | 34 bp deletion | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Sims pers comm to NCL database) | Formerly IVS11+49del | ||||
cln3.040 | N: Intron 13 | c.1056+3A>C | r.spl? | g.28493423T>G | CS052953 | p.? | Splice site | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Drury personal communication to NCL database) | Pa-cln3.388 | ||||
cln3.041 | P: Exon 15 | c.1247A>G | r.(1247a>g) | g.28488907T>C | CM052840 | p.(Asp416Gly) | Missense | Possibly damaging | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Sims personal communication to NCL database) | Pa-cln3.388 | |||
cln3.042 | N: Exon 13 | c.1056G>C | r.(1056g>c) | g.28493426C>G | HM040085 | p.Gln352His / splice defect | Missense | Possibly damaging | 1 | USA | 15991331 | Leman et al., Hum Genet, 2005 | Pa-cln3.252 | p.Gln352His / splice defect | ||
cln3.044 | C: Exon 2 | c.49G>T | r.(49g>u) | g.28502879C>A | HM040128 | p.(Glu17*) | Nonsense | 1 | USA | 16087292 | Kwon et al., Neurosci Lett., 2005 | Pa-cln3.253 | ||||
cln3.045 | D: Exon 3 | c.214C>T | r.(214c>u) | g.28500619G>A | p.(Gln72*) | Nonsense | JNCL | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.378 | ||||
cln3.046 | D: Intron 3 | c.222+2T>G | r.spl? | g.28500609A>C | p.? | Splice site | eJNCL/vLINCL | 1 | Greece | 21990111 | Santorelli and Michelakakis pers comm; Kousi et al., 2012 (Basinger personal communication to NCL database) | Pa-cln3.392 | originally IVS3+2T>G | |||
cln3.047 | L: Intron 11 | c.906+5G>A | r.spl? | g.28493793C>T | CS003697 | splice defect | Splice site | JNCL | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 (Zhong pers comm to NCL mutation database) | Pa-cln3.387 | |||
cln3.048 | G: Intron 6 | c.461-1G>C | r.spl? | g.28497972C>G | p.? | Splice defect | 2 | Canada | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.350 | |||||
cln3.048 | G: Intron 6 | c.461-1G>A[1] | r.spl? | g.28497972C>T | p.? | Intron change | 1 | USA | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.381 | A Basinger??? | ||||
cln3.049 | I: Exon 8 | c.569delG | r.(569delg) | g.28497776delC | p.(Gly190Glufs*65) | 1-bp deletion | JNCL | 2 | Portugal | 16814585 | Texeira et al., J Neurol; 2003, Bessa et al., Mol Genet Metab, 2006 | Pa-cln3.249-250 | previously described as c.568delG | |||
cln3.050 | G: Exon 6 | c.379delC | r.(379delc) | g.28498858delG | p.(Arg127Glyfs*54) | 1-bp deletion | 1 | Russia | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.379 | |||||
cln3.051 | N: Exon 13 | c.1048delC | r.(1048delc) | g.28493434delG | p.Leu350CysfsX27 | 1-bp deletion | 1 | Russia | 21990111 | Kousi et al., Hum Mutat, 2012 (Burkina personal communication to NCL database) | Pa-cln3.391 | |||||
cln3.052 | I: Intron 8 | c.678-?_1317+?del | r.spl? | g.28488837-?_28495439+?del | p.? | partly characterised deletion | 1 | Portugal | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.375-376 | frameshift / premature truncation | ||||
cln3.053 | D: Intron 3 | c.222+5G>C | r.spl? | g.28500606C>G | p.? | Splice site | JNCL | 1 | Germany | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.280 | ||||
cln3.054 | I: Exon 8 | c.565G>C | r.(565g>c) | g.28497780C>G | p.(Gly189Arg) | Missense | Possibly damaging | RP at 10y | 1 | Mexico | 24154662 | Wang et al., 2014 | Pa-cln3.416 | |||
cln3.054 | I: Exon 8 | c.565G>C | r.(565g>c) | g.28497780C>G | p.(Gly189Arg) | Missense | Possibly damaging | JNCL | 1 | Portugal | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.279 | |||
cln3.055 | P: Exon 15 | c.1268C>A | r.(1268c>a) | g.28488886G>T | p.(Ser423*) | Nonsense | 1 | Portugal | 21990111 | Kousi et al., 2012 (Laranjeira personal communication to NCL database) | Pa-cln3.393 | |||||
cln3.056 | A: Promoter | c.-1101C>T | r.(=) | g.28504365G>A | p.(=) | Sequence variant | n.a. | n.a. | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.366 | c.1-1101C>T; polymorphism | ||||
cln3.057 | A: Promoter | c.-681_-676delTGAAGC | r.(?) | g.28503756_28503761delGCTTCA | p.(?) | Sequence variant | n.a. | n.a. | 21990111 | Kousi et al., Hum Mutat, 2012 | n.a | c.1-676_1-675delTGAAGC; polymorphism? | ||||
cln3.058 | B: Exon 1 | c.1A>C | r.(1a>c) | g.28503080T>G | p.? | Missense or aberrant start | 1 | The Netherlands | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.342 | |||||
cln3.059 | C: Intron 2 | c.125+5G>A | r.spl? | g.28502798C>T | p.? | splice defect | 1 | Belgium | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.346 | |||||
cln3.060 | N: Intron 13 | c.963-1G>T | r.spl? | g.28493520C>A | p.? | Splice defect | 1 | UK | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.347 | |||||
cln3.061 | E: Exon 4 | c.233_234insG | r.(233_234insg) | g.28499972_28499973insC | p.(Thr80Asnfs*12) | Frameshift | 1 | Turkey | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.323 | |||||
cln3.062 | E: Exon 4 | c.265C>T | r.(265c>u) | g.28499941G>A | p.(Arg89*) | Nonsense | 1 | Spain | 21499717 | PŽrez-Poyato et al., J Inherit Metab Dis 2011 | Pa-cln3.271 | |||||
cln3.062 | E: Exon 4 | c.265C>T | r.(265c>u) | g.28499941G>A | p.(Arg89*) | Nonsense | 1 | Norway | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.344 | |||||
cln3.063 | I: Exon 8 | c.575G>A | r.(575g>a) | g.28497770C>T | p.(Gly192Glu) | Missense | Possibly damaging | 1 | Spain | 21499717 | PŽrez-Poyato et al., J Inherit Metab Dis 2011 | Pa-cln3.270 | ||||
cln3.064 | F: Exon 5 | c.374G>A | r.[374g>a, spl?] | g.28498983C>T | p.[Ser125Asn, ?] | Missense a/affects splice site | 2 | Spain | 21499717 | PŽrez-Poyato et al., J Inherit Metab Dis 2011 | Pa-cln3.262-263 | formerly p.Ser125Asn / splice-site affecting | ||||
cln3.065 | G: Exon 6 | c.400T>C | r.(400u>c) | g.28498837A>G | p.(Cys134Arg) | Missense | Possibly damaging | 1 | Italy | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.285 | ||||
cln3.066 | I: Exon 8 | c.582G>T | r.(582g>u) | g.28497763C>A | p.(=) | Sequence variant | 1 | Lebanon | 19489875 | Sarpong et al., Clin Genet, 2009 | N.A | p.Leu194Leu | ||||
cln3.067 | J: Intron 9 | c.790+3A>C | r.spl? | g.28495324T>G | p.? | Sequence Variant | 1 | Canada | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.353 | frameshift / premature truncation | ||||
cln3.068 | M: Exon 12 | c.954_962+18del27 | r.spl? | g.28493630_28493656del27 | p.Leu313_Trp321del / splice defect | Splice defect | 1 | Sweden | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.343 | p.Leu313_Trp321del / splice defect | ||||
cln3.068 | M: Exon 12 | c.954_962+18del27 | r.spl? | g.28493630_28493656del27 | p.Leu313_Trp321del / splice defect | Splice defect | 1 | Norway | 21990111 | Kousi et al., Hum Mutat, 2012 | Pa-cln3.344 | p.Leu313_Trp321del / splice defect | ||||
cln3.068 | M: Exon 12 | c.954_962+18del27 | r.spl? | g.28493630_28493656del27 | p.Leu313_Trp321del / splice defect | Splice defect | 1 | The Netherlands | 11589012 | Mole et al 2001 (Taschner pers comm) | Pa-cln3.390 | p.Leu313_Trp321del / splice defect | ||||
cln3.069 | 1.7 Mb microdeletion | g.28491925-30190709del | Deletion | 1 | France | 23860047 | Pebrel-Richard et al., 2014 | Pa-cln3.404 | hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3 | |||||||
cln3.070 | Exon 9 | c.784A>T | p.(Lys262*) | Nonsense | JNCL | 1 | Not known | 24625443 | Coppieters et al., 2014 | Pa-cln3.405 | ||||||
cln3.071 | H: Exon 7 | c.494G>A | p.(Gly165Glu) | Missense | 1 | Italy | 24827497 | Cortese et al., Neurol; 2014 | Pa-cln3.406-407 | |||||||
cln3.072 | N: Exon 13 | c.966C>G | p.(Tyr322*) | Nonsense | (RP) | 1 | Italy | 24154662 | Wang et al., 2014 | Pa-cln3.408-409 | (in Pas with blindness only) | |||||
cln3.073 | L: Exon 11 | c.868G>T | p.(Val290Leu) | Missense | predicted benign, assume mildly damaging | RP | 1 | Italy | 24154662 | Wang et al., 2014 | Pa-cln3.408-409 | blindness ony, age 45y | ||||
cln3.074 | P: Exon 15 | c1213C>T | p.(Arg405Trp) | Missense | RP | 26766544 | Weisschuh et al. 2016 | Pa-cln3.425 | Detected by WES in patient with RP | |||||||
cln3.074 | P: Exon 15 | c.1213C>T | r.(1213c>t) | g.28488945G>A | p.(Arg405Trp) | Missense | RP | 1 | Mohawk, Canada | 24154662 | Wang et al., 2014 | Pa-cln3.410-413 | ||||
cln3.074 | P: Exon 15 | c.1213C>T | r.(1213c>t) | g.28488945G>A | p.(Arg405Trp) | Missense | RP | 1 | Mexico | 24154662 | Wang et al., 2014 | Pa-cln3.414-415 | ||||
cln3.074 | P: Exon 15 | c.1213C>T | r.(1213c>t) | g.28488945G>A | p.(Arg405Trp) | Missense | RP | 1 | Europe | 28041643 | Carss et al. 2017 | Pa-cln3.427 | ||||
cln3.074 | P: Exon 15 | c.1213C>T | r.(1213c>t) | g.28488945G>A | p.(Arg405Trp) | Missense | RP | 1 | South Asia | 28041643 | Carss et al. 2017 | Pa-cln3.428 | ||||
cln3.074 | P: Exon 15 | c.1213C>T | r.(1213c>t) | g.28488945G>A | p.(Arg405Trp) | Missense | RP | 1 | Europe | 28041643 | Carss et al. 2017 | Pa-cln3.431 | ||||
cln3.074 | P: Exon 15 | c.1213C>T | r.(1213c>t) | g.28488945G>A | p.(Arg405Trp) | Missense | non-syndromic retinal dystrophy | 3 | UK | 28542676 | Ku et al., 2017 | Pa-cln3.433, 436, 441 | ||||
cln3.075 | C: Exon 2 | c.125+1G>C | r.spl? | g.28502794C>G | p.? | splice defect | (RP) | 1 | Mexico | 24154662 | Wang et al., 2014 | Pa-cln3.414-415 | (in Pas with blindess only ~60y) | |||
cln3.076 | G: Exon 6 | c.391A>C | r.(391a>c) | g.28498828T>G | p.(Ser131Arg) | Missense | CRD at 20y | 1 | China | 24154662 | Wang et al., 2014 | Pa-cln3.417-418 | ||||
cln3.077 | N: Exon 13 | c.979C>T | ENST00000568224 | p.(Arg327Trp) | Missense | retinitis pigmentosa | 1 | UK | N.A | A.Moore, pers comm | Pa-cln3.419 | blindness only age 35 | ||||
cln3.078 | Exon 14 | c.1135_1138delCTGT | p.(Leu379Metfs*11) | 4-bp insertion | 1 | USA | 23877479 | Drack et al. 2014, J Child Neurol 28:1112-6 | Pa-cln3.420 | |||||||
cln3.079 | I: Exon 8 | c.565G>T | r.565g>t | p.(Gly189Trp) | Missense | 1 | UK | R Williams pers comm | Pa-cln3.421 | |||||||
cln3.080 | K: Exon 10 | c.816_817del | predicted frameshift | 2-bp deletion | Possibly damaging | 1 | UK | R Williams pers comm | Pa-cln3.422-223 | |||||||
cln3.081 | N: Exon 13 | c.1045_1050del | p.(Ala349_Leu350del) | 6-bp deletion | 1 | Italy | 26360874 | Licchetta et al. 2015 | Pa-cln3.424 | six-nucleotide deletion predicted to result in the deletion of two amino acids in the sixth transmembrane domain of the protein. | ||||||
cln3.082 | Exon 11 | g.28493851T>C | p.(Ile285Val) | missense | retinitis pigmentosa | Europe | 28041643 | Carss et al. 2017 | Pa-cln3.426 | |||||||
cln3.082 | Exon 11 | g.28493851T>C | p.(Ile285Val) | missense | non-syndromic retinal disease | 1 | UK | 28542676 | Ku et al., 2017 | Pa-cln3.440 | ||||||
cln3.083 | g.28497285-28498251del | NA | large deletion | retinitis pigmentosa | Europe | 28041643 | Carss et al. 2017 | Pa-cln3.427 | ||||||||
cln3.084 | Exon 13 | c.988G>A | g.28493494C>T | p.(Val330Ile) | missense | retinitis pigmentosa | Europe | 28041643 | Carss et al. 2017 | Pa-cln3.429 | ||||||
cln3.084 | Exon 13 | c.988G>A | g.28493494C>T | p.(Val330Ile) | missense | non-syndromic retinal dystrophy | 1 | UK | 28542676 | Ku et al., 2017 | Pa-cln3.084 | |||||
cln3.085 | p.(Arg281Gln) | missense | retinitis pigmentosa | Europe | 28041643 | Carss et al. 2017 | Pa-cln3.430 | Amino acid residues may be incorrect | ||||||||
cln3.086 | Intron 14 | c.1056+34 C>A | p.(?) | ?splice | JNCL | 1 | PMC492133 | Goebel HH et al 1975 | NA | paraffin block muscle specimen. Heterozygous with 1kb deletion | ||||||
cln3.087 | Exon 10 intron or Exon 11 | c.837+5G>A | p.(?) | splice | non-syndromic retinal disease | 1 | UK | 28542676 | Ku et al., 2017 | Pa-cln3.435 | ||||||
cln3.088 | G: Intron 6 | c.461-3C>G | p.(?) | splice | non-syndromic retinal disease | 1 | USA | 28542676 | Ku et al., 2017 | Pa-cln3.437 | ||||||
cln3.089 | c.917T>A | p.(Leu306His) | missense | non-syndromic retinal disease | 1 | Canada | 28542676 | Ku et al., 2017 | Pa-cln3.438 | |||||||
cln3.090 | c.917T>A | p.(Leu306His) | missense | non-syndromic retinal disease | 1 | Canada | 28542676 | Ku et al., 2017 | Pa-cln3.439 | |||||||
cln3.091 | Exon 5 intron or Exon 6 | c.375-3C>G | p.(?) | splice | non-syndromic retinal disease | 1 | Canada | 28542676 | Ku et al., 2017 | Pa-cln3.442 | ||||||
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 | ||||||||||||||||
Last updated | 28-Nov-17 | |||||||||||||||