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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

Fig. 1

AP3B1 mutations and their predicted effect on protein structure. Homozygous or compound heterozygous mutations found in individuals with HPS-2 are listed and the expected consequence for protein structure is illustrated. Colored segments represent relevant functional protein domains and regions of altered amino acid sequence after reading frame shift (grey). Genetic nomenclature refers to the respective entries in GenBank, NCBI. (*) NM_003664.4 (**) NG_007268.1 Abbreviations: aa = amino acid, cphet = compound heterozygous, fs = frame shift

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