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.
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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.