Table 2.
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 |
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.