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)
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 |