Table 1.
Rare variants in AD-related genes identified in this study.
| Mutations | Bioinformatics prediction | Population frequency | ACMG | CADD | References | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Refseq NM | Nucleotide | Amino acid | Polyphen2 | SIFT | ESP6500 | GnomAD | ExAC | |||
| APP | NM_000484.4 | c.2061A>C | p.K687N | Probably damaging | D | 0 | 0 | 0 | Likely pathogenic | 11.82 | This study |
| PSEN1 | NM_000021.4 | c.428T>C | p.I143T | Probably damaging | D | 0 | 0 | 0 | Likely pathogenic | 27.5 | (15) |
| PSEN1 | NM_000021.4 | c.702_704dup | p.L235dup | NA | NA | 0 | 0 | 0 | Likely pathogenic | NA | This study |
| PSEN2 | NM_000447.3 | c.505C>A | p.H169N | Probably damaging | D | 0 | 0.000191 | 0.002311 | VUS | 25.2 | (16) |
| PSEN2 | NM_000447.3 | c.640G>T | p.V214L | Probably damaging | D | 0 | 0.000107 | 0.002543 | VUS | 24.4 | (17) |
| GRN | NM_002087 | c.453del | p.M152Cfs*104 | NA | NA | 0 | 0 | 0 | VUS | NA | This study |
| GRN | NM_002087 | c.1690C>T | p.R564C | Probably damaging | D | 0 | 0.0001 | 0 | VUS | 0.058 | This study |
| SORL1 | NM_003105.6 | c.4538C>A | p.T1513N | Possibly damaging | T | 0 | 0.000004 | 0.00002 | VUS | 1.4 | This study |
PolyPhen-2, Polymorphism Phenotyping v2; SIFT, Sorting Intolerant From Tolerant; ESP6500, Exome Sequencing Project v.6500; GnomAD, Genome Aggregation Database; ExAC, Exome Aggregation Consortium; ACMG, American College of Medical Genetics; VUS, Variants of Uncertain Significance; D, Deleterious. T, Tolerated. NA, Not applicable.