Mutations of the b3A subunit of the AP-3 complex gene Associated with HPS2

Mutations of the b3A subunit of the AP-3 complex.

Go to this link for a map of mutations of the b3A subunit of the AP-3 complex.

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

b3A subunit mutations associated with HPS

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Population	Reference
1165del63	Deletion of 63 bp after 1165	Deletion of 21 amino acids	12	Caucasian (Dutch)	Dell'Angelica et al., 1999
R509X	C -> T at 1525	Arg -> Stop at 509	15	Cajun/Houma Indian	Huizing et al., 2001
L580R	T -> G at 1739	Leu -> Arg at 580	16	Caucasian (Dutch)	Dell'Angelica et al., 1999
E659X	G -> T at 1975	Glu -> Stop at 659	18	Cajun/Houma Indian	Huizing et al., 2001

Nucleotide 1 begins at the first nucleotide of codon 1

References

Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A., Bonifacino, J. S. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome to mutations in the b3A subunit of the AP-3 adaptor. Molecular Cell 3:11-21. [Link to article (PubMed)]

Huizing, M., Scher, C. D., Strovel, E., Fitzpatrick, D. L., Hartnell, L. M., Anikster, Y., Gahl, W. A. (in press) Nonsense mutations in ADTB3A causre complete deficiency of the b3A subunit of adaptor complex-3 and severe Mermansky Pudlak syndrome type 2. Pediatric Research (in press).

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Last changed November 6, 2001.