Retina International's Scientific Newsletter - Small Nucleotide-binding Protein 27a Gene Mutations

	Retina International's Scientific Newsletter
	Mutation Database Mutations of the Small Nucleotide-binding Protein 27a Gene (RAB27A)

Recent update from: 17.08.2002

Phenotype	Mutation	Basechange	Nucleotide	Exon	Classification & Remarks	Reference
Sequence					The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.
GS	400bp del	del 400 bp		5	Homozygous USA	(1)
GS	149delG	G - _	149	2	Homozygous Turkish	(1)
GS	154del189bp	del 189bp	154	3	Homozygous Northern Africa	(1)
GS	Trp 73 Gly	T - G	217	3	Homozygous Within conserved GTP-binding motif Turkish	(1)
GS	IVS3-3a-g	a - g	239	IVS3	Homozygous Northern Africa	(1)
GS	Leu 130 Pro	T - C	389	5	Homozygous Affects conserved residues in RAB proteins Turkish	(1)
GS	Ala 152 Pro	G - C	454	5	Homozygous Affects conserved residues in RAB proteins Turkish Turkish	(1)
GS	IVS5+1G-C	g - c	467	IVS5	Homozygous Brazilian	(1)
GS	510delAAGCC	AAGCC - _____	510	6	Homozygous Turkish	(1)
GS	550C-T	C - T	550	6	Homozygous Mauritius	(1)

References

Menasche,G., Pastural,E., Feldmann,J., Certain,S., Ersoy,F., Dupuis,S., Wulffraat,N., Bianchi,D., Fischer,A., Le Deist,F., and de Saint Basile,G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 2000; Nat.Genet. 25: 173-176.
Link to PubMed
Goto Top

	Return to Retina International's Scientific Newsletter	Return to Mutation Database Page	Return to pagehead
Contact the editor	Return to Database Page	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