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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