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Table 4 novel variants of NPC1 gene were detected in 35 Iranian patients and in silico analysis of missense variants (Stop codon and deletions in NPC1 gene were not considered)

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 SIFT Polyphen PANTHER
PROVEAN Prediction (cutoff = -2.5) Score Prediction
(cutoff = 0.5)
subPSEC Prediction (cutoff = -3)
1 4 c.406C > T (p.Gln136Ter) 9 homo - - - - -
2 5 c.542C > A )p.Ala181Asp( 12 hetero -4.642 Deleterious 0.818 Probably damaging -2.9001 Tolerated
3 13 c.1970G > A )p.Gly657Asp( 3,22,23 homo -7 Deleterious 1 Probably damaging -5.63539 Deleterious
4 13 c.1993C > G )p.Leu665Val( 15 hetero -2.667 Deleterious 0.966 Probably damaging -3.19574 Deleterious
5 13 c.2037delG (p.Leu680CysfsTer3) 32 homo - - - - - -
6 19 c.2821 T > C )p.Ser941Pro( 4,7,8,10,12,13,15,18 hetero -4.66 Deleterious 1 Probably damaging -5.14243 Deleterious
7 19 c.2872C > G )p.Arg958Gly( 7,8,10,13,19 hetero -6.191 Deleterious 0.899 Probably damaging -4.0903 Deleterious
8 20 c.2920_2923delCCTG )p.pro974profsTer8) 2 homo - - - - - -
9 21 c.3126delC (p.His1042GlnfsTer14) 24 homo - - - - - -
10 24 c.3632 T > A )p.Val1211Glu( 6, 18,19,21 hetero -4.576 Deleterious 1 Probably damaging -4.67659 Deleterious
  1. PROVEAN Protein Variation Effect Analyser, PSEC position-specific evolutionary conservation
  2. PANTHER Protein Analysis Through Evolutionary Relationship, SIFT sorting Intolerant From Tolerant