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Mutation Database
 Mutations of the Optic Atrophy 1 Gene (OPA1)

Recent update from: 19.08.2002

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence




The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


OPA1 IVS9-1g-a g - a
IVS 09



(2)
OPA1 del Exon 20

20



(1)
OPA1 Arg 290 Gln G - A 0869 08



(1)
OPA1 Gly 300 Gln G - A 0899 09
In the G1 motif

(2)
OPA1 1016delC C - 1016 10



(1)
OPA1 Arg 366 ter C - T 1069 11



(1)
OPA1 1296delCAT CAT - 1296 13



(1)
OPA1 1354delG G - 1354 14



(1)
OPA1 1644insT - T 1644 17



(1)
OPA1 2708delTTAG TTAG - 2708 27



(2)
OPA1 2832delAGTT AGTT - 2832 28



(2)
Polymorphism Ala 7032 Ala c - T 2109




(2)
Polymorphism Glu 9078 Gly A - G 2720




(2)
Polymorphism Asn 158 Ser A - G 473




(2)

References

  1. Alexander,C., Votruba,M., Pesch,U.E., Thiselton,D.L., Mayer,S., Moore,A., Rodriguez,M., Kellner,U., Leo-Kottler,B., Auburger,G., Bhattacharya,S.S., and Wissinger,B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. 2000; Nat.Genet. 26: 211-215.
    Link to PubMed
    Goto Top

  2. Delettre,C., Lenaers,G., Griffoin,J.M., Gigarel,N., Lorenzo,C., Belenguer,P., Pelloquin,L., Grosgeorge,J., Turc-Carel,C., Perret,E., Astarie-Dequeker,C., Lasquellec,L., Arnaud,B., Ducommun,B., Kaplan,J., and Hamel,C.P. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 2000; Nat.Genet. 26: 207-210.
    Link to PubMed
    Goto Top

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Dr. rer. medic. Markus Preising, Dipl.Biol.
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Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz