Skip to main content
. 2020 Mar 2;21:45. doi: 10.1186/s12881-020-0984-7

Fig. 2.

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

HHS Vulnerability Disclosure