Table 2 Genetic profile of five patients identified in our study
From: Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
ID | Gene | Transcript ID | Genomic location | Exon | Nucleoid Changes | Amino acid change | gnomAD | ExAC | Conservation GERP++ | SIFT | Polyphen2 | ACMG |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
P474 | ANXA11 | NM_145869.2 | chr10-80170864 | Exon5 | c.107 C > G | p.P36R | 0 | 0.00090% | 4.7 | 0.018 | 0.994 | VUS |
P919 | ANXA11 | NM_145869.2 | chr10-80170864 | Exon5 | c.107 C > G | p.P36R | 0 | 0.00090% | 4.7 | 0.018 | 0.994 | VUS |
P982 | UBQLN2 | NM_013444.4 | chrX-56,565,371 | Exon1 | c.1498 C > T | p.P500S | NA | NA | 4.18 | 0.342 | 0.118 | VUS |
P478 | CCNF | NM_001761.3 | chr16-2437281 | Exon5 | c.499G > A | p.V167M | 0 | 0.0018% | 5.68 | 0.069 | 0.4 | VUS |
P623 | C9orf72 expansion | - | - | - | - | - | - | - | - | - | - | Pathogenic |