The
UMD-MSH2
mutations database
Ala to Val mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Ala2Val
c.5C>T
1
2
Mismatch binding
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
500
17_F02009__4806
-
17
p.Ala272Val
c.815C>T
5
272
EXO1 stabilization
Small rearrangement
Ts
C->T
11
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2583
SO_-4252---G06263
-
71
235
4_Gr2005-12_18342_1335
-
4
1045
31_H126_H126_1_H126_1_A
-
31
1046
31_H98_H98_1_H98_1_A
-
31
1047
31_H98_H98_2_H98_2_A
-
31
1048
31_H98_H98_4_H98_4_A
-
31
1049
31_H98_H98_6_H98_6_A
-
31
1050
31_H98_H98_7_H98_7_A
-
31
1085
33_PSL 252__05-354
-
33
1331
37_L09.038_9519_83445
-
37
1545
7_12901527E03264
-
7