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Mutation Database
Mutations of the Small Nucleotide-binding Protein 27a Gene (RAB27A)

Recent update from: 17.08.2002


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.


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

  1. 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
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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