Table 3

Variants identified by whole genome sequencing in Family A
Chr Genomic Location Mutation type Gene name Ref Allele Var Allele Protein change Deleterious-ness (CPPred)
10 62214606 Nonsyn SNP CDC2 C T c.175C>T:p.Arg59Cys −10
2 179118837 Nonsyn SNP TTN C T c.90449G>A:p.Gly30150Asp −9
11 72144446 Nonsyn SNP NY-CO-28, STARD10 C T c.578G>A:p.Gly193Asp −6
16 5080536 Nonsyn SNP FAM86A C A c.374G>T:p.Ser125Ile −2
18 65945866 Nonsyn SNP RTTN T C c.3235A>G:p.Ile1079Val 3

These variants (except for the CDC2 variant that is a rare polymorphism designated as rs8755) have been submitted to the GenBank; the accession numbers are [GeneBank:JX424570] for the TTN variant, [GeneBank:JX424571] for the NY-CO-28,STARD10 variant, [GeneBank:JX424572] for the FAM86A variant, and [GeneBank:JX424573] for the RTTN variant.

Toro et al.

Toro et al. BMC Neurology 2013 13:29   doi:10.1186/1471-2377-13-29

Open Data