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Mutations of the Hermansky-Pudlak Syndrome-1 gene (HPS1)Associated with Hermansky-Pudlak Syndrome |
Mutations of the Hermansky-Pudlak Syndrome gene associated with HPS1.
Polymorphisms of the Hermansky-Pudlak Syndrome (HPS1) gene.
Go to this link for a map of mutations of the Hermansky Pudlak Syndrome gene associated with HPS1.
The Albinism Database is part of the International Albinism Center at the University of Minnesota.
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| 163delATC | c.163-165delATC | p.del55Ile | EX4 | Afghan | Oh et al., 1998 |
| 288delT | c.288delT | Frameshift | EX5 | Japanese | Spritz and Oh, 1999 Ito et al., 2005 |
| R131X | c.391C>T | p.Arg131Ter | EX5 | Spanish | Rivera et al., 2001 |
| W583X | Unknown | p.Trp583Ter | EX5 | Japanese | Ito et al., 2005 |
| E133X | c.397G>T | p.Glu133Ter | EX5 | Italian/German/Ukrainian | Shotelersuk et al., 1998 |
| IVS5+5G -> A | IVS5+5G -> A | Splice mutation | IVS5 | Japanese | Oh et al., 1998 Ito et al., 2005 |
| 532insC | c.532insC | Frameshift | Japanese | Ito et al., 2005 | |
| 962insG | c.962insG | Frameshift | EX11 | Japanese | Horikawa et al., 2000 |
| 964delG | Deletion of G at 964 | Frameshift | EX11 | Ukrainian | Oh et al., 1998 |
| 974delC | Deletion of C at 974 | Frameshift | EX11 | Caucasian | Oh et al., 1998 |
| 974insC | Insertion of C after 974 | Frameshift | EX11 | Swiss/Irish | Oh et al., 1996 Ito et al., 2005 |
| 1189delC | Deletion of C at 1189 | Frameshift | EX13 | Caucasian | Oh et al., 1998 |
| 1323insA | Insertion of A after 1323 | Frameshift | EX13 | Japanese | Oh et al., 1996 Ito et al., 2005 |
| 1488ins16 | Duplication of 16 bp after 1488 | Frameshift | EX15 | North-West Puerto Rico | Oh et al., 1996 |
| IVS17-2A ->C | IVS17-2A ->C | Splice mutation | IVS17 | Caucasian | Oetting and King, 1998 |
| 1691delA | c.1691delA | frameshift | Japanese | Ito et al., 2005 | |
| E666X | G -> T at 1996 | Glu - Stop at 666 | EX20 | Caucasian | Oh et al., 1998 |
| L668P | Unknown | p.L668P | Japanese | Ito et al., 2005 |
Nucleotide 1 begins at the first nucleotide of codon 1
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| -151C/A | 156C/A | 5' UTR change | 2 | Caucasian / Asian | Bailin et al., 1997 |
| 297C/T | C or T at 297 | No change Thr99 | 5 | Caucasian / Asian | Bailin et al., 1997 |
| 635C/T | C or T at 635 | No change Leu212 | 7 | Caucasian | Unpublished |
| IVS8+29C/A | IVS8+29C/A | None | IVS8 | Caucasian | Unpublished |
| G/W283 | G or T at 847 | Gly or Trp at 283 | 9 | Caucasian | Oh et al., 1996 |
| IVS11+13T/C | IVS11+13T/C | None | IVS11 | Asian | Bailin et al., 1997 |
| IVS14+7GG/CT | IVS14+7GG/CT | None | IVS14 | Caucasian / Asian | Bailin et al., 1997 |
| P/R491 | C or T at 1472 | Pro or Arg at 491 | 15 | Caucasian / Asian | Oh et al., 1996 |
| IVS16-15A/G | IVS16-15A/G | None | IVS16 | Caucasian / Asian | Bailin et al., 1997 |
| 1698G/A | G or A at 1698 | No change Ser566 | 17 | Portugese | Bailin et al., 1997 |
| R/Q603 | Gor A at 1808 | Arg or Gln at 603 | 18 | Caucasian / Asian | Bailin et al., 1997 |
| V/I630 | G or A at 1888 | Val or Ile at 630 | 19 | Swiss | Oh et al., 1996 |
| IVS19+9A/G | IVS19+9A/G | None | IVS19 | Asian | Bailin et al., 1997 |
| 1018C/T | 1018C/T | change in 3'UTR of short transcript | 10 | Caucasian | Wildenberg et al, 1998 |
| 1107C/T | 1107C/T | change in 3'UTR of short transcript | 10 | Puerto Rican | Wildenberg et al, 1998 |
| 2375C/T | 2375C/T | 3' UTR change | 20 | Caucasian / Asian | Bailin et al., 1997 |
| 2427T/C | 2427T/C | 3' UTR change | 20 | Caucasian / Asian | Bailin et al., 1997 |
| 2555G/A | 2555G/A | 3' UTR change | 20 | Caucasian / Asian | Bailin et al., 1997 |
| 2576G/A | 2576G/A | 3' UTR change | 20 | Caucasian | Wildenberg et al., 1998 |
| 2797C/T | 2797C/T | 3' UTR change | 20 | Caucasian / Puerto Rican | Wildenberg et al., 1998 |
| 2863G/C | 2863G/C | 3' UTR change | 20 | Caucasian / Asian | Bailin et al., 1997 |
| 1097C/T | 1328C/T | Change in 3'UTR of short transcript (Alteration segregates with HPS) | 10 | Puerto Rican | Wildenberg et al, 1998 |
Nucleotide 1 begins at the first nucleotide of codon 1
Bailin, T., Oh, J., Feng, G. H., Fukai, K., Spritz, R. A. Organization and nucleotide sequence of the Hermansky-Pudlak (HPS) gene. Journal of Investigative Dermatology 108:923-927, 1997. [Link to article (PubMed)]
Horikawa, T., Araki, K., Fukai, K., Ueda, M., Ueda, T., Ito, S., Ichihashi, M. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. British Journal of Dermatology 143:635-640, 2000. [Link to article (PubMed)]
Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. Journal of Investigative Dermatology. 125:715-20, 2005. [Link to article (PubMed)]
Oetting, W. S., King, R.A. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism. Human Mutation 13:99-115, 1998. [Link to article (PubMed)]
Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J-I., Frenk, E., Tamura, N., Spritz, R. A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genetics 14:300-306. 1996. [Link to article (PubMed)]
Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J. P., Fong, C-T., Green, J. S., Heon, E., Legius, E., Levin, A. V., Nieuwenhuis, H. K., Pinckers, A., Tamura, N., Whiteford, M. L., Yamasaki, H., Spritz, R. A. Mutation analysis of patients with Hermansky-Pudlak Syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity. American Journal of Human Genetics 62: 593-598, 1998. [Link to article (PubMed)]
Rivera, J., Corrall, J., Gonzalez-Conejero, R., Zuaza-Jausoro, I., Pujol-Miox, N., Escolar, G., Vicente, V. Molecular characterization of new genetic defects in the HPS-1 gene. Relationship with the clinical expression of the Hermansky-Pudlak syndrome. Thrombosis and Haemostasis, Suppl. 2001 Paris.
Shotelersuk, V., Hazelwood, S., Larson, D., Iwata, F., Kaiser-Kupfer, M. I., Kuehl, E., Bernardini, I., Gahl, W. A. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Molecular Genetics and Metabolism 64:99-107, 1998. [Link to article (PubMed)]
Spritz R. A., Oh, J. HPS gene mutations in Hermansky-Pudlak syndrome. American Journal of Human Genetics 64:658-659, 1999. [Link to article (PubMed)]
Unpublished data. King, R.A., Wildenberg, S. C., Oetting W.S.
Wildenberg, S. C., Fryer J. P., Gardner J. M., Oetting W. S., Brilliant M. H., King R. A. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak Syndrome in Puerto Rico. Journal of Investigative Dermatology 110:777-781, 1998. [Link to article (PubMed)]
Wildenberg, S. C., Fryer, J. P., Oetting, W. S., King, R. A. Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak Syndrome. Human Mutation Mutation and Polymophism Report #37, 1998. [Online Publication]
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Last changed September 21, 2009.