TableĀ 1

Characteristics of compound heterozygous mutations found in our patient in the SLC52A3 gene

ExonNucleotideAmino acid changeReferencePresent in 900 controlsPresent in 150 sALSFATHMM prediction
5c.1237 T>Cp.V413Ars2676066871 NoNoDamaging
  • FATHMM, functional analysis through hidden Markov models (prediction software for the functional consequences of coding and non-coding variants); sALS, sporadic amyotrophic lateral sclerosis.