The UMD-MSH2 mutations database
Val to Deletion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Val63X
c.187delG
1
63
Mismatch binding
Small rearrangement
Fr.
Stop at 63
1   
p.Val147CysfsX4
c.439_440delGT
3
147
Connector
Small rearrangement
Fr.
Stop at 150
1   
p.Val150AlafsX3
c.449_522del
3
150
Connector
Small rearrangement
Fr.
Stop at 152
1   
p.Val437X
c.1309delG
8
437
EXO1 stabilization
Small rearrangement
Fr.
Stop at 437
3   
p.Val463IlefsX8
c.1387_1400del
9
463
EXO1 stabilization
Small rearrangement
Fr.
Stop at 470
5   
p.Ser703_Val712del
c.2106_2135del
13
702
ATPase
Small rearrangement
InF
In frame del
2   
p.Ser723HisfsX3
c.2166_2173del
13
722
ATPase
Small rearrangement
Fr.
Stop at 725
1