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Scientific Newsletter


Mutation Database
Mutations of the RP2 Gene

Recent update from: 04.08.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
RP2 Microdeletion del ex 4
4



(3)
RP2 IVS1insLINE1 LINE1 Retrotransposon
IVS1



(3)
RP2 16delTCC TCC-___ 0016 1



(3)
RP2 77insCA insCA 077 1



(2)
RP2 Gln 26 ter CAG-TAG 0076 1



(3)
RP2 Cys 108 Gly T-G 322 2
Compound
330del13bp


(2)
RP2 330del13bp del13bp 330 2
Compound
C108G


(2)
RP2 Arg 118 His CGT-CAT 0353 2



(3)
RP2 Arg 120 ter CGA-TGA 0358 2



(1)
RP2 Arg120 ter C-T 358 2



(2)
RP2 Tyr 151 ter TAC-TAG 0453 2



(3)
RP2 453delC TAC-TA_ 0453 2



(3)
RP2 483ins7bp insGGGCTAA 0483 2



(2)
RP2 688del5bp GAA GAG CAG-G__ ___ CAG 0688 2



(1)
RP2 925insAG insAG 0925 4



(2)
RP2 929insT GTA-GTTA 0929 4



(1)

References

1. Hardcastle, A.J., Thiselton, D.L., Van Maldergem, L., Saha, B.K., Jay, M., Plant, C., Taylor, R., Bird, A.C., and Bhattacharya, S. Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study. 1999; Am.J.Hum.Genet. 64: 1210 - 1215.
Goto Top

2. Mears, A.J., Gieser, L., Yan, D., Chen, C., Fahrner, S., Hiriyanna, S., Fujita, R., Jacobson, S.G., Sieving, P.A., and Swaroop, A. Protein-truncation mutations in the RP2 gene in a north american cohort of families with X-linked retinitis pigmentosa. 1999; Am.J.Hum.Genet. 64: 897 - 900.
Goto Top Link to PudMed

3. Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A.A., Rosenberg, T., Pinckers, A.J., Fundele, R., Rosenthal, A., Cremers, F.P., Ropers, H.H., and Berger, W. Positional cloning of the gene for X-linked retinitis pigmentosa 2. 1998; Nat.Genet. 19: 327 - 332.
Goto Top Link to PudMed


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Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz