The UMD-MSH2 mutations database
Glu to Deletion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu7GlyfsX57
c.20delA
1
7
Mismatch binding
Small rearrangement
Fr.
Stop at 63
2   
p.Glu28ArgfsX36
c.82delG
1
28
Mismatch binding
Small rearrangement
Fr.
Stop at 63
3   
p.Glu56ArgfsX8
c.166delG
1
56
Mismatch binding
Small rearrangement
Fr.
Stop at 63
4   
p.Glu290_Gln324del
c.868_972del
5
290
EXO1 stabilization
Small rearrangement
InF
In frame del
1   
p.Glu290AspfsX2
c.870delA
5
290
EXO1 stabilization
Small rearrangement
Fr.
Stop at 291
1   
p.Glu529LysfsX14
c.1585delG
10
529
EXO1 stabilization
Small rearrangement
Fr.
Stop at 542
10   
p.Glu569IlefsX2
c.1705_1706delGA
11
569
EXO1 stabilization
Small rearrangement
Fr.
Stop at 570
12   
p.Ala573ProfsX17
c.1716delA
11
572
EXO1 stabilization
Small rearrangement
Fr.
Stop at 589
1   
p.Glu731LysfsX14
c.2191delG
13
731
ATPase
Small rearrangement
Fr.
Stop at 744
8   
p.Glu853GlyfsX39
c.2558delA
15
853
ATPase
Small rearrangement
Fr.
Stop at 891
1   
p.Glu859_Gln861del
c.2576_2584del
15
859
Helix-turn-helix
Small rearrangement
InF
In frame del
1   
p.Glu878AlafsX3
c.2633_2634delAG
15
878
MSH3/MSH6 interaction
Small rearrangement
Fr.
Stop at 880
7   
p.Glu881LysfsX11
c.2641delG
16
881
MSH3/MSH6 interaction
Small rearrangement
Fr.
Stop at 891
1