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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


(1)
JNCL Ser 162 ter C-G 0485 07 +NlaIII Compound
1.02 kb del


(1)
JNCL Leu 170 Pro T-C 0509 07
Compound
1.02 kb del


(1)
JNCL 558delAG del AG 0558 08 -AlwNI Heterozygous

(1)
JNCL 586insG ins G 0586 08
Heterozygous

(1)
JNCL Gln 211 ter C-T 0631 08 +AccI Heterozygous

(1)
JNCL Glu 295 Lys G-A 0883 11
Compound
1.02 kb del


(1)
JNCL 944insA ins A 0944 12 +HincII Heterozygous

(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


(1)
JNCL Arg 334 Cys C-T 1000 13 -BsrBI Compound
1.02 kb del


(1)
JNCL Arg 334 His G-A 1001 13 -BsrBI Compound
1.02 kb del


(1)
JNCL Gln 352 ter C-T 1054 13 -PstI Compound
1.02 kb del


(1)
JNCL 1272delG del G 1272 15
Compound
1.02 kb del


(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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Molecular Genetics Laboratory
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