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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Novel variants of ABCA4 in Han Chinese families with Stargardt disease

Fig. 3

Distribution of the detected mutants in the ABCA4 functional domains and conservation analyses. a Location of 21 mutants in six functional domains. Black: missense mutant. Red: splicing mutant. Purple: frameshift mutant. Green: nonsense mutant. Yellow: small deletion mutant. b Multiple orthologous sequence alignment displaying the conserved amino acid residues (Glycine 1006 and Tyrosine 1723)

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