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SSP |
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Author: Luc Buee, Inserm 422
Location of mutations on repeats (R) exons or introns, provoking an increase of specific tau isoforms.
Clinical and neuropathological phenotypes
are very different according to the mutations, as well as the biochemical
signatures. Furthermore, for a given mutation, there is an important
heterogenity of the clinical phenotype, inside the same family.
Mutations |
Localisation |
Aggregates |
Isoforms |
R5H |
Exon 1 |
Glial |
4R |
R5L |
Exon 1 |
Neu(DNF) |
4R+1N3R |
K257T |
Exon 9 |
Neu(Pi) |
3R>4R |
I260V |
Exon 9 |
ND |
4R |
L266V |
Exon 9 |
Neu/Glial |
3R+4R |
G272V |
Exon 9 |
Neu(Pi) |
3R+4R |
N279K |
Exon 10 |
Neu/Glial |
4R |
???eK280 |
Exon 10 |
ND |
ND |
L284L |
Exon 10 |
Neu |
4R? |
N296H |
Exon 10 |
Neu/Glial |
4R |
N296N |
Exon 10 |
Neu/Glial |
4R |
???eN296 |
Exon 10 |
ND |
ND |
P301L |
Exon 10 |
Neu |
4R |
P301S |
Exon 10 |
Neu |
4R |
S305N |
Exon 10 |
Neu |
4R |
S305S |
Exon 10 |
Neu |
4R |
+3,+11,+12,+13,+14,+16 |
Intron 10 |
Neu/Glial |
4R |
+19,+29 |
Intron 10 |
ND |
3R>>4R |
+33 |
Intron 10 |
ND |
ND |
L315R |
Exon 11 |
Neu(Pi)/Glial |
3R+4R(sauf 0N3R) |
S320F |
Exon 11 |
Neu(Pi) |
ND |
Q336R |
Exon 12 |
Neu(Pi) |
3R+4R ? |
V337M |
Exon 12 |
Neu |
3R+4R |
E342V |
Exon 12 |
Neu |
4R(0N4R>1N4R>2N4R) |
S352V |
Exon 12 |
Neu |
ND |
K369I |
Exon 12 |
Neu(Pi)/Glial |
3R+4R |
G389R |
Exon 13 |
Neu(Pi) |
4R>3R |
R406W |
Exon 13 |
Neu |
3R+4R |
Explanation for tau biochemical signatures, from type I to
type IV, click here
From Patrice Delobel thesis
