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Mutation Database
 Mutations of the Membrane-associated Transport Protein Gene (MATP)

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.


OCA4 IVS2- G-A G - A
IVS2
Turkish
Homozygous
Deletion of TMD4 changes orientation of TMD5-12

(1)
Polymorphism Thr 329 Thr






(1)
Polymorphism Phe 347 Leu



Homozygous in unaffected

(1)

References

  1. Newton,J.M., Cohen-Barak,O., Hagiwara,N., Gardner,J.M., Davisson,M.T., King,R.A., and Brilliant,M.H. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4. 2001; Am.J.Hum.Genet. 69: 981-988.
    Link to PubMed
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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