Skip to main content

Table 2 Comparison of LRSAM1 mutations

From: A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

DNA

Protein

Expression

RING domain

Transmission

Reference

c.1913-1G>A

p.Glu638AlafsX7

Ø

n.a.

Recessive

Guernsey et al. 2010 [7]

c.2122_2123insGC

p.Leu708ArgfsX28

n.d.

Disrupted

Dominant

Weterman et al. 2012 [8]

c.2047-1G>A

p.Ala683ProfsX3

+

Disrupted

Dominant

Nicolaou et al. 2013 [9]

c.2046+1G>T

p.Glu682_Ala683ins21

n.d.

Disrupted

Dominant

Herein

  1. Overview of mutations in LRSAM1 associated with axonal CMT. Expression refers to protein expression as determined by Western blotting in whole-cell lysates of patient-derived lymphoblastoid cell lines. The RING domain (amino acid 675-710) is called disrupted when not present in its entirety.