Scientific Newsletter
Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene |
Recent update from: 04.08.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| ADRP | Pro 60 Thr | CCT-ACT | 1 |
|
CM951116 |
|
(1) | ||
| ADRP | Thr 108 Met | ACG-ATG | 1 |
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CM951118 |
|
(1) | ||
| Polymorphism | IVS3-13c-t | TTGCTT-TTTCTT | IVS3 |
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|
|
(3) | ||
| Polymorphism | IVS2-26insa | CCTAA-CCTTAA | IVS2 |
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|
|
(3) | ||
| Polymorphism | Arg 16 His | CGC-CAG | 1 |
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|
|
(3) | ||
| Polymorphism | Leu 27 Leu | CTG-CTT | 1 |
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|
|
(3) | ||
| Polymorphism | Ala 118 Gly | GCC-GGC | 1 | +HaeIII |
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|
|
(2) | |
| Polymorphism | Arg 223 Arg | CGG-CGC | 2 | -MspI, -SecI |
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|
|
(2) | |
| Polymorphism | -7 5ŽUTR | c-t | 5ŽUTR | +BsmI |
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|
|
(2) | |
| Polymorphism | IVS1ins1bp | IVS1 | -MseI |
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|
|
(2) | ||
| Rare Variant | Arg 229 His | G-A | 2 |
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|
|
(2) | ||
| Rare Variant | Ala 265 Thr | G-A | 2 |
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|
|
(2) | ||
| Rare Variant | Met 271 Thr | T-C | 2 | -NlaIII, -SphI |
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|
|
(2) | |
| RP atypical | Leu 114 ins 1bp | 1 |
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|
|
(1) | |||
| RP digenic | Gly 80 insG | _-G | 1 |
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CI941885 |
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(4) | ||
| RP digenic | Leu 114 insG | _-G | 1 |
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CI941886 |
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(4) | ||
| RP simplex | Gly 75 Asp | GGC-GAC | 1 |
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CM951117 |
|
(1) | ||
| RP simplex | Arg 242 Gln | CGA-CCA | 2 |
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CM951118 |
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(1) |
References
1. Bascom, R.A., Liu, L., Heckenlively, J.R., Stone, E.M., and McInnes, R.R. Mutation analysis of the ROM1 gene in retinitis pigmentosa. 1995; Hum.Mol.Genet. 4: 1895 - 1902. 2. Bascom, R.A., Liu, L., Humphries, P., Fishman, G.A., Murray, J.C., and McInnes, R.R. Polymorphisms and rare sequence variants at the ROM1 locus. 1993; Hum.Mol.Genet. 2: 1975 - 1977. 3. Dryja, T.P., Hahn, L.B., Kajiwara, K., and Berson, E.L. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. 1997; Invest.Ophthalmol.Vis.Sci. 38: 1972 - 1982. 4. Kajiwara, K., Berson, E.L., and Dryja, T.P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. 1994; Science. 264: 1604 - 1608.
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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 |
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