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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

Fig. 2

a Schematic representation of the SEPT9 gene with the identified heterozygous variant c.1406 T > C in Exon 8 in CMT compared to HNA-associated variants in the 5’UTR, Exon 1 and Exon 2. (not drawn to scale). ENST00000427177.6. b Evolutionary conservation of Valin at position 469 in septin9. c Schematic domain structure of SEPT9 isoforms and their functional domains. Highlighted in red identified variant in this study, in blue known HNA linked variants. PB: polybasic region

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BMC Medical Genetics

ISSN: 1471-2350

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