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Figure 4 | Molecular Medicine

Figure 4

From: Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Figure 4

XLP mutations and gene structure. (A) ALAS2 loss-of-function and gain-of-function mutations causing X-linked sideroblastic anemia and EPP. Mutations in black and blue are those reported in the Human Gene Mutation Database, release date 29 June 2012. The mutations in bold are published mutations also found in patients of this study. The mutations in bold italics are the novel mutations. (B) Variations in the C-terminal sequences of the XLP gain-of-function mutations. The partial wild-type exon 11 ALAS2 sequence is boxed. The hybrid sequences of wild-type ALAS2and the sequence following the mutation sites are aligned below the wild-type sequence. The termination codons are denoted by asterisks. Note that for the pE569GfsX24 and pQ581SfsX13 mutations, the last 12 mutated residues are identical to each other and different from the wild-type.

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Molecular Medicine

ISSN: 1528-3658