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Scientific Newsletter


Mutation Database
 Mutations of the ep-Gene (HPS1)

Recent update from: 17.08.2002

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence




The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


HPS1 IVS5+5G-A G - A
IVS5
Compound:
  • 962insG
reduced eumelanin
604982-0007 (1)
HPS1 IVS17-2a-c a - c
IVS17
Homozygous

(4)
To online reference
HPS1 Glu 133 ter G - T


Compound:
  • 1176insC

604982-0005 (1)
HPS1 Glu 666 ter



Compound:
  • 1178insC

604982-0003 (2)
HPS1 962insG _ - G 0962 11
Compound:
  • IVS5+5G-A
reduced eumelanin
604982-0006 (1)
HPS1 1176delC CCC ATG - _CC ATG 11765

Homozygous
604982-0004 (2)
HPS1 1178insC CCC ATG - CCC CAT GGA 1178

Homozygous
Compound:
  • G283W
  • V630I
  • E666X

604982-0002 (2)
HPS1 Ala 441 insA GCA CAG - GCA ACA GGA 1529

Homozygous

(2)
HPS1 Pro 496 ins 16bp CCA CAC - CCC CAG CAG GGG AGG CCC ACA 1692 15
Homozygous
604982-0001 (2)
Polymorphism 1015c-t c - t 1015 3'UTR



(3)
Polymorphism Gly 283 Trp GGG - TGG 1053




(2)
Polymorphism Val 630 Ile GTC - ATC 2094




(2)
Polymorphism 2576c-t c - t 2576 3'UTR



(3)
Polymorphism 2979c-t c - t 2979 3'UTR



(3)

References

  1. Horikawa,T., Araki,K., Fukai,K., Ueda,M., Ueda,T., Ito,S., and Ichihashi,M. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 2000; Br.J.Dermatol. 143: 635-640.
    Link to PubMed
    Goto Top

  2. Oh,J., Bailin,T., Fukai,K., Feng,G.H., Ho,L., Mao,J.I., Frenk,E., Tamura,N., and Spritz,R.A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 1996; Nat.Genet. 14: 300-306.
    Link to PubMed
    Goto Top

  3. Wildenberg,S.C., Fryer,J.P., Oetting,W.S., and King,R.A. Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome. 1998; Hum.Mutat. Online:
    Human Mutation Online
    Goto Top

  4. Wildenberg,S.C., Fryer,J.P., Oetting,W.S., and King,R.A. A novel splice site mutation (IVS17-2a>c) associated with Hermansky-Pudlak syndrome. 1999; Hum.Mutat.Online.
    Human Mutation Online
    Goto Top

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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz