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Scientific Newsletter


Mutation Database
Mutations of the L-type Calcium-Channel Gene

Recent update from: 18.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
CSNB2 1023delC GAC-GA_ 1023 9 +FokI


(1)
CSNB2 Gly 369 Asp G-A 1106 08



(2)
CSNB2 Arg 508 Gln G-A 1523 13



(2)
CSNB2 Arg 830 ter CGA-TGA 2488 21 +FokI


(1)
CSNB2 Arg 958 ter C-T 2172 24



(2)
CSNB2 Leu 991 insC ins C 1023 27



(1)
CSNB2 3133insC ins C 3133 27



(2)
CSNB2 Arg 1049 Trp C-T 3145 27



(2)
CSNB2 3477delC ATC-AT_ 3477 30 -FokI


(1)
CSNB2 3658-3669del del 12 bp 3658 30



(2)
CSNB2 Arg 1234 ter CGA-TGA 3702 33 -DdeI


(1)
CSNB2 Gln 1348 ter C-T 4042 35



(2)
CSNB2 Leu 1364 His T-A 4091 35



(2)
CSNB2 Trp 1386 ter TGG-TGA 4158 37 -AvaII


(1)
CSNB2 Lys 1591 ter A-T 4771 41



(2)

References

1. Bech Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A., and Boycott, K.M. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 264 - 267.
Goto Top Link to PudMed

2. Strom, T.M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B.H., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., and Meindl, A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 260 - 263.
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