Patient | Nucleotide change | Amino acid change | |
---|---|---|---|
*Nucleotide numbering following rapsyn cDNA sequence (GenBank accession number AF449218). | |||
Family 1 | Patient 1 | 264C→A | N88K Homozygous |
Patient 2 | 264C→A | N88K Homozygous | |
Family 2 | Patient 3 | 264C→A | N88K |
493G→A | V165M | ||
Family 3 | Patient 4 | 264C→A | N88K |
IVS4-2A→G | Splice mutation | ||
Family 4 | Patient 5 | 264C→A | N88K |
1083_1084dupCT | Frameshift mutation |