TDP-43 |
A90V |
NLS |
Cytoplasmic mis-localization to SGs |
[193, 194] |
D169G |
RRM1 |
Decrease Ubiquitination in cytoplasmic and nuclear inclusions |
[195, 196] |
K263E |
RRM2 |
A315T, G335D, M337V, Q343R N345K and R361S |
Glycine rich LCD |
Promote phase separation; more fibrillar granules |
[197–199] |
FUS |
G156E |
PrLD |
Increased self-templating capacity, defective RNA binding |
[200] |
R244C |
Glycine rich LCD |
Defective RNA binding |
[200] |
R495X |
RGG |
Increased targeting to SGs |
[201] |
H517Q, R521G/C, R522G and P525L |
NLS |
Cytoplasmic mis-localization and increased accumulation in perinuclear SGs |
[201–203] |
HNRNPA1 |
D262V/N, D314V and N267S |
PrLD |
Increased self-templating capacity |
[95, 204, 205] |
F273L, M276L and F281L |
NLS (or TPNO-1 binding) domain |
Cytoplasmic mis-localization and increased targeting to SGs |
[118] |
HNRNPA2/B1 |
D290V |
PrLD |
Increased amyloidogenic cytoplasmic inclusions |
[95] |
EWSR1 |
P522L and G511A |
RGG |
Increased cytoplasmic localization, Increased self-aggregation |
[206, 207] |
TAF15 |
M368T, G391E, R408C and G473E |
RGG |
Cytoplasmic mis-colalization, increased targeting to SGs |
[207, 208] |
TIA-1/R |
P362L, A381T and E384K |
LCD |
Increased targeting to SGs |
[94] |
C9orf72 |
(G4C2) hexanucleotide expansions in intron 1 |
N/A |
G2C2-RNA repeats and arginine-rich dipeptide repeats promote phase separation and maturation of SGs to amyloid-like inclusions |
[59, 164] |