Additional Table 1.
SQSTM1/p62 variants identified in ALS or FTLD patients
| Mutation | Exon | Change (bp) | p62 Domain | ALS | FTLD | PDB | Controls |
|---|---|---|---|---|---|---|---|
| A16V | 1 | c.47C>T | – | Yesh | Yesh | – | – |
| A33V | 1 | c.98C>T | PB1 | Yesb | Yesbk | – | Yesh |
| A53T | 1 | c.157G>A | PB1 | Yesc | – | – | – |
| D80E | 1 | c.240C>G | PB1 | – | Yesh | – | – |
| E81K | 2 | c.241G>A | PB1 | Yesi | – | – | – |
| M87V | 2 | c.259A>G | PB1 | Yese | – | – | – |
| V90M | 2 | c.268G>A | PB1 | Yesdh | – | – | – |
| I99L | 2 | c.295A>C | PB1 | Yesf | – | – | – |
| K102E | 3 | c.304A>G | C-terminal to PB1 | Yesc | – | – | – |
| R107W | 3 | c.319C>T | – | Yesh | – | – | – |
| R110C | 3 | c.328C>T | – | – | Yesk | – | – |
| D129N | 3 | c.358G>A | ZZ | Yesh | – | – | – |
| V153I | 3 | c.457G>A | ZZ | Yesbd | – | – | Yesh |
| E155K | 3 | c.463G>A | ZZ | Yesg | – | – | |
| R212C | 4 | c.634C>T | – | Yesh | Yesh | – | – |
| G219V | 4 | c.656G>T | – | – | Yesh | – | – |
| S226P | 5 | c.676T>C | TBS | – | Yesh | – | – |
| P228L | 5 | c.683C>T | TBS | Yesb | – | – | Yesagk |
| P232T | 5 | c.694C>A | TBS | – | Yesh | – | – |
| V234V | 5 | c.702G>A | TBS | Yesb | – | – | – |
| K238E | 5 | c.712A>G | TBS | Yesa | Yesk | – | Yeshk |
| K238del | 5 | c.714–716delGAA | TBS | Yesb | – | – | Yesh |
| N239K | 5 | c.717C>A | TBS | Yesi | – | – | – |
| D258N | 6 | c.772G>A | – | Yesh | – | – | – |
| V259L | 6 | c.775G>C | – | – | Yesa | – | – |
| H261H | 6 | c.783C>T | Close to PEST1 | Yesb | – | – | Yesb |
| E274D | 6 | c.822G>C | PEST 1 | Yesagh | Yesahk | – | Yesahk |
| E280del | 6 | c.838-840delGAG | PEST1 | – | Yesh | – | – |
| P296P | 6 | c.888G>T | Close to PEST1 | Yesg | – | – | Yesg |
| G297S | 6 | c.889G>A | Close to PEST1 | Yesi | – | – | – |
| R312H | 6 | c.1029A>G | – | – | Yesk | – | – |
| S318P | 6 | c.952T>C | – | Yesb | – | – | |
| S318S | 6 | c.954C>T | – | Yesg | – | – | Yesg |
| E319K | 6 | c.955G>A | – | – | Yesa | – | Yesh |
| R321C | 6 | c.961C>T | – | Yesb | – | – | Yesh |
| R321H | 6 | c.962G>A | – | – | Yesh | – | – |
| D329G | 7 | c.986A>G | LIR | – | Yesh | – | – |
| D337E | 7 | c.1011C>G | LIR | Yesf | – | – | – |
| L341V | 7 | c.1021C>G | LIR | Yesf | – | – | – |
| K344E | 7 | c.1032A>G | Close to LIR/KIR | – | Yesa | – | – |
| V346V | 7 | c.1038G>A | KIR | Yesg | – | – | Yesg |
| P348L | 7 | c.1044C>T | KIR | Yesa | Yesh | – | – |
| S370P | 7 | c.1108T>C | PEST 2 | Yesb | – | – | Yesh |
| E372D | 7 | c.1116G>C | PEST2 | Yesi | – | – | – |
| A381V | 7 | c.1142C>T | Close to UBA | – | Yesk | Yes | – |
| P387L | 7 | c.1160C>T | Close to UBA | – | Yeshk | – | – |
| P388S | 7 | c.1162C>T | Close to UBA | Yesi | – | – | – |
| A390X | 7 | c.1165+1G>A | Intronic | Yese | – | Yes | – |
| P392A | 7 | c.1174C>G | UBA | – | Yesj | – | – |
| P392L | 8 | c.1175C>T | UBA | Yesbcghi | Yeshk | Yesk | Yeshk |
| G411S | 8 | c.1231G>A | UBA | Yesb | – | Yes | – |
| G425R | 8 | c.1273G>A | UBA | Yesb | – | Yes | Yesh |
| T430P | 8 | c.1288AA>C | UBA | – | Yesh | – | – |
| P438L | 8 | c.1313C>T | C-terminal region | Yesa | – | – | Yeseh |
| P439L | 8 | c.1316C>T | C-terminal region | Yesc | Yesh | – | Yesh |
ALS: Amyotrophic lateral sclerosis; FTLD: frontotemporal lobar degeneration; KIR: Keap1-interacting region; LIR: LC3-interacting region; PB1: Phox and Bem1p; PEST: proline, glutamate, serine and threonine rich sequence; TBS: TRAF6 binding sequence; UBA: ubiquitin-associated; ZZ: zinc finger. a: Rubino et al., 2012; b: Fecto et al., 2011; c: Hirano et al., 2013; d: Shimizu et al., 2013; e: Teyssou et al., 2013; f: Chen et al., 2014; g: Kwok et al., 2014; h: van der Zee et al., 2014; i: Yang et al., 2015; j: Blauwendraat et al., 2018; k: Le Ber et al., 2013.