PSEN1 Flashcards
1
Q
PSEN1 chromosomal postion
A
14q24.2
2
Q
How many exons does PSEN1 span
A
12 exons
3
Q
Size of PS1
A
467 amino acids
4
Q
Where is the large cytosolic loop on PS1
A
Between transmembrane domain 6 and 7
5
Q
How many transmembrane domains does PS1 have
A
9 TMDs
6
Q
What are the 2 fragments of PS1
A
30 kDa N-terminal fragment and 20kDa C-terminal fragment
7
Q
Where is PS1 localised
A
Endoplasmic reticulum, golgi apparatus, lysosomes and autophagosomes
8
Q
What percentage of missense mutations occur in exons 5-8
A
70% occurring in 5-8
