Table 1.
List of pathogenic CMS mutations found in the NMJ signaling proteins described in this review.
| Protein | Mutation | Location of mutation | References |
|---|---|---|---|
| MuSK | p.Asp38Glu | Ig1 domain | Gallenmuller et al., 2014 |
| c.220insC | Ig1 domain | Chevessier et al., 2004 | |
| p.Asn103Ser | Ig1 domain | Giarrana et al., 2015 | |
| c.467delA | Ig1 domain | Maggi et al., 2013 | |
| p.Arg166* | Ig2 domain | Giarrana et al., 2015 | |
| p.Pro344Arg | Fz-CRD | Mihaylova et al., 2009 | |
| p.Met605Ile | TK domain | Maselli et al., 2010 | |
| p.Pro650Thr | TK domain | Luan et al., 2016 | |
| p.Ala727Val | TK domain | Maselli et al., 2010 | |
| p.Val790Met | TK domain | Chevessier et al., 2004 | |
| p.Ile795Ser | TK domain | Luan et al., 2016 | |
| p.Met835Val | TK domain | Ben Ammar et al., 2013 | |
| LRP4 | p.Glu1233Ala | β-E3 domain | Selcen et al., 2015 |
| p.Arg1277His | β-E3 domain | Ohkawara et al., 2014 | |
| Agrin | p.Gly76Ser | NtA domain | Nicole et al., 2014 |
| p.Asn105Ile | NtA domain | Nicole et al., 2014 | |
| p.Gln353* | follistatin-like 3 domain | Maselli et al., 2012 | |
| p.Gly1709Arg | LG2 domain | Huze et al., 2009 | |
| p.Val1727Phe | LG2 domain | Maselli et al., 2012 | |
| p.Ala1768Pro | LG2 domain | Karakaya et al., 2017 | |
| p.Gly1875Arg | LG3 domain | Nicole et al., 2014 | |
| Dok7 | p.Ser45Leu | PH domain | Ben Ammar et al., 2010 |
| p.Val116Met | PH domain | Ben Ammar et al., 2010 | |
| p.Pro146Leu | PTB domain | Ben Ammar et al., 2010 | |
| p.Leu157Arg | PTB domain | Ben Ammar et al., 2010 | |
| p.Gly171Arg | PTB domain | Ben Ammar et al., 2010 | |
| p.Gly172Arg | PTB domain | Ben Ammar et al., 2010 | |
| p.Gly180Val | PTB domain | Ben Ammar et al., 2010 | |
| p.Arg201* | PTB domain | Beeson et al., 2006 | |
| c.1124TGCC-DUP | Beeson et al., 2006 | ||
| Rapsyn | p.Leu14Pro | TPR1 domain | Ohno et al., 2002 |
| p.Val45Leu | TPR2 domain | Maselli et al., 2007 | |
| p.Asn88Lys | TPR3 domain | Ohno et al., 2002 | |
| p.Glu162Lys | TPR5 domain | Maselli et al., 2007 | |
| p.Arg164Cys | TPR5 domain | Muller et al., 2006 | |
| p.Tyr269* | TPR7 domain | Dunne and Maselli, 2003 | |
| p.Leu283Pro | linker between TPR7 and coiled coil | Muller et al., 2006 |
For each mutation, the protein domain that contains the mutated residue is reported. Stars (*) indicate premature polypeptide termination due to insertion of stop codons in the mutated gene.