Table 2 The normal repeat ranges for 13 genes estimated by RepeatHMM-DB, in comparison to normal/pathogenic repeat ranges based on prior knowledge from literature
From: Genome-wide detection of short tandem repeat expansions by long-read sequencing
Type | Gene | Codon | Normal | Est. | Ref. | Pathogenic |
|---|---|---|---|---|---|---|
DRPLA (Dentatorubral-pallidoluysian atrophy) | ATN1 or DRPLA | CAG | 6–35 | 11–22 | 19 | 49–88 |
HD (Huntington's disease) | HTT | CAG | 6–35 | 17–30 | 21 | 36–250 |
SBMA (Spinal-bulbar muscular atrophy) | AR | CAG | 9–36 | 18–27 | 23 | 38–62 |
SCA1 (Spinocerebellar ataxia Type 1) | ATXN1 | CAG | 6–35 | 23–32 | 29 | 49–88 |
SCA2 (Spinocerebellar ataxia Type 2) | ATXN2 | CAG | 14–32 | 15–22 | 23 | 33–77 |
SCA3 (Spinocerebellar ataxia Type 3) | ATXN3 | CAG | 12–39 | 11–28 | 14 | 55–86 |
SCA6 (Spinocerebellar ataxia Type 6) | CACNA1A | CAG | 4–18 | 7–14 | 13 | 21–30 |
SCA7 (Spinocerebellar ataxia Type 7) | ATXN7 | CAG | 7–17 | 9–12 | 10 | 38–120 |
FRAXA (Fragile X syndrome) | FMR1, on the X-chr | CGG | 6–53 | 20–30 | 20 | 230+/55–200 |
FRAXE (Fragile XE mental retardation) | AFF2, on the X-chr | CCG | 6–35 | 25–35 | 29 | 200+ |
FRDA (Friedreich's ataxia) | FXN or X25 | GAA | 7–34 | 7–10 | 6 | 100+ |
DM (Myotonic dystrophy) | DMPK | CTG | 5–34 | 5–16 | 20 | 50+ |
SCA8 (Spinocerebellar ataxia Type 8) | ATXN8 or SCA8 | CTG | 16–37 | 8–21 | 26 | 110–250 |