Table 1 Reported mutations in the AAAS gene in subjects with triple A syndrome. The numbering of nucleotides corresponds to the conventions of Dunnen and Antonarakis. [26] The most commonly-reported mutation is IVS 14+1G>A.
Position | Protein | cDNA Mutation | References |
|---|---|---|---|
IVS 4 | IVS 4-2A>G | Tullio-Pelet et al. (2000) | |
Ex 9 | R312X | 934C>T | Tullio-Pelet et al. (2000) |
Ex10 | S328fsX363 | 981_982insT | Tullio-Pelet et al. (2000) |
IVS 14 | IVS 14+1G>A | Tullio-Pelet et al. (2000), Sandrini et al. (2001); Reshmi-Skarja et al (2003); Roubergue A et al (2004) | |
Ex 16 | R478X | 1432C>T | Tullio-Pelet et al. (2000); Yuksel et al. (2004) |
Ex 1 | Q15K | 43C>A | Handschug et al. (2001), Sandrini et al. (2001), Houlden et al. (2002); Prpic et al. (2003) |
Ex 2 | W84X | 251G>A | Handschug et al. (2001) |
Ex 6 | H160R | 479A>G | Handschug et al. (2001) |
Ex 6 | F157fsX171 | 470_471delTT | Handschug et al. (2001) |
Ex 8 | S263P | 787T>C | Handschug et al. (2001), Houlden et al. (2002); Prpic et al. (2003) |
Ex 15 | S463fsX549 | 1389delC | Handschug et al. (2001) |
Ex 9 | R286X | 856C>T | Handschug et al. (2001), this report |
Ex 11 | R342X | 1024C>T | Handschug et al. (2001) |
Ex 9 | W295X | 884G>A | Schmittmann-Ohters (2001) |
IVS 11 | IVS 11+1G>A | Sandrini et al. (2001) | |
Ex 16 | R478X | 1432C>T | Goizet et al. (2002), Yuksel et al. (2004) |
Ex 8 | Q237X | 709C>T | Katsumata et al. (2002) |
Ex 2 | I70fsX92 | 210delC | Houlden et al. (2002) |
Ex 7 | R230X | 678C>T | Houlden et al. (2002), Reshmi-Skarja et al. (2003) |
Ex 10 | V313A | 1238T>C | Houlden et al. (2002) |
Ex 11 | L356fsX362 | 1066-1067delCT | Houlden et al. (2002) |
Ex 12 | S382fsX413 | 1144-1147delTCTG | Houlden et al. (2002) |
Ex 12 | D368fsX382 | 1104-1105insC | Houlden et al. (2002) |
Ex 13 | 397fxs27 | 1191insA | Houlden et al. (2002) |
Ex 16 | W474X | 1421G>A | Houlden et al. (2002) |
Ex 12 | Q387X | 1159C>T | Prpic et al. (2003) |
Ex 2 | H71fsX92 | 211delC | Reshmi-Skarja et al. (2003) |
Ex 4 | R119X | 355C>T | Reshmi-Skarja et al. (2003) |
Ex 5 | Q145X | 433C>T | Reshmi-Skarja et al. (2003) |
IVS 5 | IVS 5+3insT | Reshmi-Skarja et al. (2003) | |
Ex 15 | Q456X | 1366C>T | Reshmi-Skarja et al. (2003) |
Ex 15 | X492 | 1368-1372delGCTCA | this report |