Table 3 The Mutational Analysis of five Chinese patients with Adrenomyeloneuropathy
Patient number | Exon | Nucleotide change | Allele | Protein localization | Type | Reference |
|---|---|---|---|---|---|---|
1 | 8 | c.1849C > T | p. Arg617Cys | NBD | Missense | Kumar et al., 2010 [12] |
2 | 1 | c.346G > A | p. Gly116Arg | TMD | Missense | Feigenbaum et al.,1996 [13] |
4 | 8 | c.1817C > T | p. Ser606Leu | NBD | Missense | Fanen et al.,1994 [14] |
5 | 3 | c.1166G > A | p. Arg389His | TMD to NBD | Missense | Kok et al.,1995 [15] |
6 | 8 | c.1843dup | p. Met615fsa | NBD | Frameshift | Novel |