|
1
|
c.[463 T > C] + [1029G > T]
|
3 and 9
|
p.[S155P] + [R343S]
|
p.S155P: loss of three hydrogen bonds and steric clash with Ala186 [12]. p.R343S: direct interaction with both sulfhydryl groups of the catalytic Cys336/Cys341 pair. Might affect substrate binding and reactivity.
|
|
2
|
c.[836C > T] + [836C > T]
|
6
|
p.[A279V] + [A279V]
|
Steric clash with Phe275 and Ala283 [12].
|
|
3
|
c.[836C > T] + [836C > T]
|
6
|
p.[A279V] + [A279V]
|
Idem
|
|
4
|
c.[836C > T] + [836C > T]
|
6
|
p.[A279V] + [A279V]
|
Idem
|
|
5
|
c.[893C > A] + [519 + 4A > G]
|
7 and 3
|
p.[A298E] + [A149_A173del, A175del]
|
p.A298E: neither affects FGE fold nor binding to the Ca2+ ion at site 2.
|
|
6
|
c.[788G > T] + [788G > T]
|
6
|
p.[G263V] + [G263V]
|
Steric clash with Thr263 and Thr270 [12].
|
|
7
|
c.[520_954dup (+) 520_954dup]
|
4 to 7
|
p.[V174_P318dup] + [V174_P318dup]
| |
|
8
|
c.[706C > T] + [1045C > T]
|
5 and 9
|
p.[R236X] + [R349W]
|
p.R349W: loss of five interactions [12]. Should affect protein fold in the vicinity of the active site.
|
|
9
|
c.[132_133insG] + [1045C > T]
|
1 and 9
|
p.[V45fsX75] + [R349W]
|
idem
|
|
10
|
c.[776A > G;1018 T > C] + [725 + 1G > C]
|
6, 9 and 5
|
p.[N259S; Y340H] + [P202_R242del]
|
p.N259S precludes binding to Ca2+ ion at site 1. p.Y340H should not induce major structural changes.
|
