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Scientific Newsletter


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

CM951118
(1)
Polymorphism IVS3-13c-t TTGCTT-TTTCTT
IVS3



(3)
Polymorphism IVS2-26insa CCTAA-CCTTAA
IVS2



(3)
Polymorphism Arg 16 His CGC-CAG
1



(3)
Polymorphism Leu 27 Leu CTG-CTT
1



(3)
Polymorphism Ala 118 Gly GCC-GGC
1 +HaeIII


(2)
Polymorphism Arg 223 Arg CGG-CGC
2 -MspI, -SecI


(2)
Polymorphism -7 5ŽUTR c-t
5ŽUTR +BsmI


(2)
Polymorphism IVS1ins1bp

IVS1 -MseI


(2)
Rare Variant Arg 229 His G-A
2



(2)
Rare Variant Ala 265 Thr G-A
2



(2)
Rare Variant Met 271 Thr T-C
2 -NlaIII, -SphI


(2)
RP atypical Leu 114 ins 1bp

1



(1)
RP digenic Gly 80 insG _-G
1

CI941885
(4)
RP digenic Leu 114 insG _-G
1

CI941886
(4)
RP simplex Gly 75 Asp GGC-GAC
1

CM951117
(1)
RP simplex Arg 242 Gln CGA-CCA
2

CM951118
(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.
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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.
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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.
Goto Top Link to PudMed

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.
Goto Top Link to PudMed


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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