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Figure 1 | Human Genomics

Figure 1

From: Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses

Figure 1

Examples of SNP genotypes and disease susceptibility. (a,b) The mutant G75D in RBP4 introduces a negative charge into the cavity, thereby interfering with retinol binding both electrostatically and sterically. The result is vitamin A deficiency, with a phenotype of night blindness. Panels a and b show the normal and mutant forms of RBP4 protein. (c,d) An example of a polymorphic variant that disrupts a critical disulphide bond is C260Y in HLA-H, culminating in hereditary haemochromatosis. Panels c and d show the normal and mutant forms of HLA-H protein.

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Human Genomics

ISSN: 1479-7364