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.
|Oculocutaneous albinism type 1 (OCA1)||TYR||203100 (OCA1A||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|
Table of pigment associated genes
This table is a list of mouse coat color associated genes, their human homologues and associated human diseases. There are also links to Jackson Laboratories and OMIM for each of the loci.
International Albinism Center Homepage
PanAmerican Society for Pigment Cell Research.
The PASPCR is a society of scientists having expertise in the fields of biology, chemistry, medicine, physics and all other sciences involved in research on normal and atypical pigment cells in humans and atypical pigment cells in humans and other animals and to encourage the exchange and dissemination of information regarding all aspects of pigmentation.
International Federation of Pigment Cell Societies.
The IFPCS is a federation of regional scientific societies devoted to the study of various aspects of pigment cells.
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
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.