SPG4 variations with unknown effect and polymorphisms in patients with sporadic spastic paraplegia
| FN | Origin | Type | Exon/intron | Nucleotide change | Consequence | Polymorphism |
|---|---|---|---|---|---|---|
| FN: family number. | ||||||
| 39 | France | Synonymous | Ex 1 | c.390 C→A | p.Ala130Ala | |
| 82 | France | Intronic | Intr 16 | c.1728+32 c→g | Unknown | |
| 330 | France | Intronic | Intr 16 | c.1729-20 t→a | Unknown | |
| 637 | France | Intronic | Intr 12 | c.1493+18 g→t | Unknown | – |
| 308 | France | Intronic | Intr 12 | c.1493+18 g→t | Unknown | |
| 141 | France | Intronic | Intr 12 | c.1494-3 dupt | Unknown | |
| 78 | France | – | – | – | c.131 C→T/p.Ser44Leu | |
| 320 | France | – | – | – | c.131 C→T/p.Ser44Leu | |
| 257 | France | – | – | – | c.879 G→A/p.Pro293Pro | |
| 649 | France | – | – | – | c.879 G→A/p.Pro293Pro | |
| 1613 | France | – | – | – | c.879 G→A/p.Pro293Pro | |