Table 1 Summary of variants revealed by whole-exome sequencing in the patients with SCA
From: ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia
Gene | SNP ID | Nucleotide/protein | Prediction by | ||||
|---|---|---|---|---|---|---|---|
SIFT | PolyPhen2 | MutationTaster | MutationAssessor | fathmm | |||
ITPR1 | rs397514535 | c.4657G>A p.Val1553Met | Tolerated | Probably damaging | Disease causing | Predicted non-functional (low) | Tolerated |
COL6A3 | rs146092501 | c.4156G>A p.Glu1386Lys | Tolerated | Possibly damaging | Polymorphism | Predicted non-functional (low) | Damaging |
SCN9A | rs41268673 | c.1828C>A p.Pro610Thr | Tolerated | Benign | Disease causing | Predicted functional (medium) | Damaging |
SYNE1 | rs138787771 | c.23315G>A p.Arg7772Gln | Tolerated | Benign | Disease causing | Predicted functional (medium) | Tolerated |
COL9A1 | rs77706858 | c.1349A>G p.Glu450Gly | Tolerated | Probably damaging | Disease causing | Predicted non-functional (low) | Damaging |