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Scientific Newsletter


Mutation Database
Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene

Recent update from: 25.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
CLN1 Leu 10 ter T-A 0029 1
Compound
T75P
R151X


(1)
CLN1 Thr 75 Pro A-C 0223 1
Compound
R151X
L10X
Homozygous


(1)
CLN1 Asp 79 Gly A-G 0236 1
Compound
R151X


(1)
CLN1 Arg 151 ter A-T 0451 2
Compound
D79G
T75P
L219Q


(1)
CLN1 Leu 219 Gln T-A 0656 2
Compound
R151X


(1)

References

1. Mitchison, H.M., Hofmann, S.L., Becerra, C.H.R., Munroe, P.B., Lake, B.D., Crow, Y.J., Stephenson, J.B.P., Williams, R.E., Hofman, I.L., Taschner, P.E.M., Martin, J.J., Philippart, M., Andermann, E., Andermann, F., Mole, S.E., Gardiner, R.M., Orawe, A.M., Becerra, C.H., Stephenson, J.B., and O'Rawe, A.M. Mutations In The Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits. 1998; Hum.Mol.Genet. 7: 291 - 297.
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This site is maintained and edited by
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