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Figure 4 | BMC Medical Genetics

Figure 4

From: The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

Figure 4

Overview of the exon distribution of FH missense, renal cell cancer associated and exclusively FH deficiency related mutations. Mutations in red have been identified in cases of renal cell cancer of either type II papillary or collecting duct morphology. Variants in yellow have (as yet) been found exclusively in cases of FH deficiency. The accompanying table lists the numbers of missense variants per exon. (*These mutations are distinct at the DNA level).

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BMC Medical Genetics

ISSN: 1471-2350

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