Fig. 3
From: Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
Graphic representation of LITAF protein organization. It is a 161-amino acid polypeptide with an MW of 17 kDa. The protein consists of a proline-rich region and a LITAF/SIMPLE-like domain. This domain responsible for the association of the protein with the membrane is divided into the left and right Cys-Cys (CC) arms, which are both separated by the 22 to 25 amino acid hydrophobic region (HR). In LITAF variant p.W116C, the Trp at position 116 has been substituted by Cys. The position of the substitution is on the very left end of the HR domain