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

Name
Nucleotide Change*
Effect on coding Sequence
Exon
Population
Reference
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


References

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)]


Back to the Albinism Database Homepage.

Last changed November 6, 2001.