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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin

Fig. 2

a Pedigree with affected family members denoted by black fillings, the index patient (III-2) is indicated by a red arrow. b Heterozygous INF2-mutation (c.485 T > C) present in all affected family members, indicated as MT for mutant and WT for wildtype. c Highly conserved amino acid-residue leucine (p.162), altered to proline in affected family members, located within the N–terminal DID-domain. Legend: ESRD, end-stage renal disease; H.s., Homo sapiens; M.m., Mus musculus; G.g., Gallus gallus; X.l., Xenopus laevis; D.r., Danio rerio; PU, proteinuria

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BMC Medical Genetics

ISSN: 1471-2350

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