No | Exon No | DNA change | Protein change | Patient No | State | Reference |
---|---|---|---|---|---|---|
1 | 5 | c.506A > T | p.Asn169Ile | 5 | homo | Reunert (2016) EBioMedicine 4 |
2 | 5 | c.551G > A | p.Cys184Tyr | 14,20 | homo | Chamova (2016) Eur Neurol 75 |
3 | 8 | c.1070C > T | p.Ser357Leu | 25 | homo | Zhonghua Er Ke Za Zhi. 2016 |
4 | 8 | c.1180 T > C | p.Tyr394His | 31 | homo | Tonekaboni. Iranian Journal of Child Neurology, 2015 |
5 | 8 | c.1192C > T | p.His398Tyr | 17,33 | homo | Tonekaboni. Iranian Journal of Child Neurology, 2015 |
6 | 9 | c.1415 T > C | p.Leu472Pro | 27,35 | homo | ASL SN, Vakili R,. Iranian journal of child neurology, 2017 |
7 | 9 | c.1433A > C | p.Asn478Thr | 29,30,34 | homo | Tonekaboni. Iranian Journal of Child Neurology, 2015 |
8 | 13 | c.1990G > A | P.Val664Met | 4,6,21 | hetero | Park (2003) Hum Mutant 22, 313 |
9 | 18 | c.2776G > A | p.Ala926Thr | 1,11 | homo | Fernandez-Valero (2005) Clin Genet 68, 245 |
10 | 21 | c.3100G > A | p.Gly1034Arg | 16,26,28 | homo | Yang (2005) J Neurol Neurosurg Psychiatry 76,592 |