Characteristics of compound heterozygous mutations found in our patient in the SLC52A3 gene
| Exon | Nucleotide | Amino acid change | Reference | Present in 900 controls | Present in 150 sALS | FATHMM prediction |
|---|---|---|---|---|---|---|
| 5 | c.1237 T>C | p.V413A | rs2676066871 | No | No | Damaging |
| 5 | c.1381T>G | p.D461Y | rs140360713 | No | No | Damaging |
FATHMM, functional analysis through hidden Markov models (prediction software for the functional consequences of coding and non-coding variants); sALS, sporadic amyotrophic lateral sclerosis.