The Albinism Database is edited by William Oetting, University of Minnesota. This database includes mutations associated with all major known forms of oculocutaneous and ocular albinism. The Albinism Database is part of the Locus Specific Mutation Databases of the Human Genome Variation Society..

Please use this link for the submission of new mutations.

Type of Albinism	Human Locus	OMIM Link	Link to Table of Mutations and Polymorphisms	Map of Mutation Locations
Oculocutaneous albinism type 1 (OCA1)	TYR	203100 (OCA1A 606952 (OCA1B)	Mutations and Polymorphisms of TYR	Mutation locations for TYR
Oculocutaneous albinism type 2 (OCA2)	OCA2	203200	Mutations and Polymorphisms of P	Mutation locations for P
Oculocutaneous albinism type 3 (OCA3)	TYRP1	203290	Mutations and Polymorphisms of TYRP1	Mutation locations for TYRP1
Oculocutaneous albinism type 4 (OCA4)	SLC45A2	606574	Mutations and Polymorphisms of SLC45A2	Mutation locations for SLC45A2
Hermansky-Pudlak Syndrome type 1 (HPS1)	HPS1	203300	Mutations and Polymorphisms of HPS1	Mutation locations for HPS1
Hermansky-Pudlak Syndrome type 2 (HPS2)	AP3B1	603401	Mutations and Polymorphisms of ADTB3A	Mutation locations for ADTB3A
Hermansky-Pudlak Syndrome type 3 (HPS3)	HPS3	606118	Mutations and Polymorphisms of HPS3
Hermansky-Pudlak Syndrome type 4 (HPS4)	HPS4	606682
Chediak-Higashi Syndrome	LYST	214500	Mutations and Polymorphisms of LYST	Mutation locations for LYST
Ocular Albinism type 1	GPR143	300500	Mutations and Polymorphisms of GPR143	Mutation locations for GPR143

Other links of interest:

Coat color genes of cattle
A brief review of what is currently known about the genes controlling cattle coat colors and patterns. There is also a brief review of the genes controlling dog coat colors and patterns.

Facts About Albinism

Fine print section

This mutation database is part of the Locus Specific Mutation Databases of the Human Genome Variation Society.

COPYRIGHT-The material on this site cannot be copied or used without the written permission of William Oetting. Contact him at

Disclaimer

The information provided in this database is accurate to the best of our ability, but the authors make no guarantee of its reliability.

For suggestions, comments or corrections please contact: Bill Oetting at

This page was modified last on September 21, 2009.

Copyright 2009, the Albinism Database.