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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Cystinuria: an inborn cause of urolithiasis

Figure 2

Genomic structure and putative function of the encoded protein regions of the cystinuria genes: the total number of mutations described so far for each exon is shown above, the localisation of the most frequent mutations is shown below the exon structure. a) SLC3A1/rBAT (TMD transmembrane domain; the largest part of the protein consists of an ectodomain (light brown) of three domains A-C, for further details see [4]). b) SLC7A9/b0,+AT (TMD transmembrane domain).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172