Albiniam Database, University of Minnesota

Mutations of the Hermansky-Pudlak Syndrome-3 gene (HPS3)

Associated with Hermansky-Pudlak Syndrome

Mutations of the Hermansky-Pudlak Syndrome gene associated with HPS3.

Polymorphisms of the Hermansky-Pudlak Syndrome (HPS3) gene.

Go to this link for a map of mutations of the Hermansky Pudlak Syndrome gene associated with HPS3.

The Albinism Database is part of the International Albinism Center at the University of Minnesota.

Hermansky-Pudlak Syndrome gene mutations associated with HPS3

Nucleotide Change*
Effect on coding Sequence
del 3904bp del 3904 bp in exon1 No transcript 1, IVS1 Central Puerto Rico Anikster et al., 2001
IVS5+1C->T G->C at 1303+1 Splice mutation IVS5 Ashkenazi Jewish Huizing et al., 2001
R397W C -> T at 1189 Arg to Trp at 397 6 German Swiss Huizing et al., 2001
IVS9+2T->G T->G at 1831+2 Splice mutation IVS9 Ashkenazi Jewish Huizing et al., 2001
IVS14-2A->G A-> G at 2621-2 Splice mutation IVS14 Irish/German Huizing et al., 2001
IVS14+1G->C G->C at 2729+1 Splice mutation IVS14 German/Swiss Huizing et al., 2001
2889ins89bp Insertion of 89 bp at 2889 Frameshift mutation
Termination at codon 986
16 Irish/English Huizing et al., 2001

Nucleotide 1 begins at the first nucleotide of codon 1


Anikster, Y., Huizing, M., White, J., Shevchenko, Y. O., Fitzpatrick, D. L., Touchman, J. W., Compton, J. G., Bale, S. J., Swank, R. T., Gahl, W. A., Toro, J. R. (2001) Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genetics 28:376-380. [Link to article (PubMed)]

Huizing, M., Anikster, Y., Fitzpatrick, D. L., Jeong, A. B., D'Souza, M., Rausche, M., Toro, J. R., Kaiser-Kupfer, M. I., White, J. G., Gahl, W.A. (2001) Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. American Journal of Human Genetics 69:1022-1032. [Link to article (PubMed)]

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Last changed November 6, 2001.