RAPSN mutations in the four white families*
| 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 | ||