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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort

Fig. 1

Genetic variants of PAX2 that associated with kidney disease. The localization and effect on the protein sequence of all reported PAX2 pathogenic variants (90, labeled with black lines) and pathogenic variants (20, labeled with red lines) identified from the Chinese Children Genetic Kidney Disease Database (CCGKDD) were highlighted. The upper panel showed the variants identified in patients with renal coloboma syndrome (RCS). The lower panel showed the variants identified in patients with isolated CAKUT or nephrosis or CKD of unknown etiology (CKDu). The middle panel showed the exon/intron structure of the human PAX2 gene. The functional domains are shaded in different colors: N-terminal paired domain (linen) and, Octapeptide motif (grey), homeodomain (olive) and C-terminal Transactivation domain (linen). Frameshift variants (boxed in magnifier), truncating variants (boxed in cantaloupe), splice site variants (boxed in yellow) and missense variants (boxed in blue) were shown, respectively. Residues with two colors represented the variants for different types in the same residual position

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