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Table 3 information about previously reported mutations found in the study

From: Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

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