Databases Mutation Databases

Recent update from: 18.09.2006

In the recent past the number of mutations in genes underlying retinal disorders has increased. This page is intended to summarize these mutations. Below you will find links to subpages showing a collection of mutations sorted by proteins. The collection will be extend on demand.
The mutations will be presented according to the guidelines reported on our Mutation Nomenclature Page.We are currently in the process to adjust the mutation database to the nomenclature given by the Human Genom Variation Society (HGVS). Please, see introductory notes with each gene.
Parts of the nucleotide/codon assignment will be given as reported by the authors.
There will be an elaborated sequence available of you click on the helix

	11 cis-Retinol Dehydrogenase			Adaptin b3a Gene			Arrestin
	Aryl-hydrocarbon Interacting Protein-like 1 Gene			ATP-binding Cassette Transporter Retina			Bardet-Biedl Syndrome 1 Gene
	Bardet-Biedl Syndrome 2 Gene			Bardet-Biedl Syndrome 4 Gene			Bardet-Biedl Syndrome 7 Gene
	Bestrophin			Cadherin-related Protein 23			Cellular Retinaldehyde-binding Protein
	Centrosomal Protein; 290 kDa			Ceroidlipofuscinosis 3			Chediak Higashi Syndrome
	Cone-Rod Homebox gene			Cyclic Nucleotide-gated Cation Channel, cone			Cyclic Nucleotide-gated Cation Channel, rod
	EGF-containing Fibulin-like Extracellular Matrix Protein 1			Elongation of Very Long Chain Fatty Acids-like Protein 4			ep-Gene
	Fascin			Glutamate receptor, metabotropic 6			Guanylate Cyclase
	Harmonin			Hermansky Pudlak Syndrome, ep			HPS3 Gene
	HRG4			Human Crumbs Homologue			Inosine Monophosphate Dehydrogenase 1
	Lecithin:Retinol Acyl Transferase			le-gene (HPS4)			L-type Calcium Channel
	McKusick-Kaufman Gene			Membrane-associated Transport Protein			MER Receptor Tyrosine Kinase
	Multidrug Resistance-associated Protein 6 (ABCC6)			Myosin VIIa			Neuroretina-linked Leucine Zipper
	Norrin			Nyctalopin			OA1 Gene
	Optic Atrophy 1 Gene			Palmitoyl-Protein Thioesterase			P-cadherin
	P-Gene			Phosducin			Phosphodiesterase
	Photopigments			Precursor mRNA Processing Protein 8			Prominin-like gene 1
	Protein Kinase Cg			Protocadherin 15			Rab Escort Protein 1
	RDS/Peripherin			Retina Nuclear Receptor			Retinitis Pigmentosa GTPase Regulator
	Retinitis Pigmentosa GTPase Regulator Interacting Protein			Retinoschisin			Rhodopsin
	Rhodopsin Kinase			RNA Processing Factor 31			ROM1
	RP1			RP2			RPE65
	RPE-retina G-protein-coupled Receptor			Second Mitochondrial Serine tRNA Gene MTTS2			Serum Retinol-binding Protein
	Small Nucleotide-binding Protein RAB27A			Tissue Inhibitor of Metalloprotease			Transducin
	Tubby-like Protein 1			Tyrosinase			Tyrosinase-related Protein
	USH3 Gene			Usherin

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Contact the editor	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz