Scientific Newsletter
Mutations of the CLN3 Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the CLN3 Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| JNCL | IVS14-1g-t | g-t | IVS14 |
Compound 1.02 kb del |
|
|
(1) | ||
| JNCL | IVS6-13g-c | g-c | IVS6 |
Compound 1.02 kb del |
|
|
(1) | ||
| JNCL | del 1.02 kb | del 1.02 kb |
Compound most other and self |
|
|
(1) | |||
| JNCL | Leu 110 Pro | T-C | 0302 | 05 | -BsiHKAI |
Compound 1.02 kb del |
|
|
(1) |
| JNCL | 373insCC | ins CC | 0373 | 06 |
Compound 1.02 kb del |
|
|
(1) | |
| JNCL | 424delG | del G | 0424 | 06 | -BstNI | Heterozygous |
|
|
(1) |
| JNCL | Ser 161 ter | C-G | 0482 | 07 | +Sau3A |
Compound 1.02 kb del |
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|
(1) |
| JNCL | Ser 162 ter | C-G | 0485 | 07 | +NlaIII |
Compound 1.02 kb del |
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|
(1) |
| JNCL | Leu 170 Pro | T-C | 0509 | 07 |
Compound 1.02 kb del |
|
|
(1) | |
| JNCL | 558delAG | del AG | 0558 | 08 | -AlwNI | Heterozygous |
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|
(1) |
| JNCL | 586insG | ins G | 0586 | 08 | Heterozygous |
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|
(1) | |
| JNCL | Gln 211 ter | C-T | 0631 | 08 | +AccI | Heterozygous |
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|
(1) |
| JNCL | Glu 295 Lys | G-A | 0883 | 11 |
Compound 1.02 kb del |
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|
(1) | |
| JNCL | 944insA | ins A | 0944 | 12 | +HincII | Heterozygous |
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|
(1) |
| JNCL | Gln 327 ter | C-T | 0979 | 13 | +BfaI |
Compound 1.02 kb del |
|
|
(1) |
| JNCL | Val 330 Phe | G-T | 0988 | 13 |
Compound 1.02 kb del |
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|
(1) | |
| JNCL | Arg 334 Cys | C-T | 1000 | 13 | -BsrBI |
Compound 1.02 kb del |
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|
(1) |
| JNCL | Arg 334 His | G-A | 1001 | 13 | -BsrBI |
Compound 1.02 kb del |
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|
(1) |
| JNCL | Gln 352 ter | C-T | 1054 | 13 | -PstI |
Compound 1.02 kb del |
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|
(1) |
| JNCL | 1272delG | del G | 1272 | 15 |
Compound 1.02 kb del |
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|
(1) |
References
1. Munroe, P.B., Mitchison, H.M., Orawe, A.M., Anderson, J.W., Boustany, R.M., Lerner, T.J., Taschner, P.E.M., Devos, N., Breuning, M.H., Gardiner, R.M., and Mole, S. Spectrum Of Mutations In The Batten Disease Gene, CLN3. 1997; Am.J.Hum.Genet. 61: 310 - 316.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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