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. Author manuscript; available in PMC: 2014 Nov 1.
Published in final edited form as: Hum Mutat. 2013 Sep 11;34(11):10.1002/humu.22426. doi: 10.1002/humu.22426

Table 1.

Pathology data and references for PMS2 VUS tested in this work

Mutation
In vitro MMR (This work) Pathologyc,d
Referencesd
Proteina DNAb MSI IHC
PMS2 MLH1
I18V c.52A>G + 1, 2
R20Q c.59G>A + H3 1, 2, 3, 4, 5
E41A c.122A>C - 5
S46I c.137G>T - H3, 6 Neg3, 6 Pos6 2, 3, 4, 6, 7, 8
S46N c.137G>A - 7, 8
D60E c.180C>G + LOVD
Q205P c.614A>C + LOVD
G207E c.620G>A + H9 Neg9 9
L263V c.787C>G + LOVD
A423T c.1267G>A + 10
H479Q c.1437C>G + 11, 12
T485K c.1454C>A + H6 Neg6 Pos6 1, 2, 4, 6, 11
T511A c.1531A>G + H3 2, 3, 6, 11, 12
T511M c.1532C>T + LOVD
Y519C c.1556A>G + LOVD
E541K c.1621A>G + 1, 2, 5, 6
R563L c.1688G>T + 1, 2, 8
L571I c.1711C>A + 2
L585I c.1753C>A + 1
T597S c.1789A>T + L3 1, 3, 4, 5, 11
M622I c.1866G>A + 1, 2, 4, 6, 8, 11
E663A c.1988A>C + 8
E705K c.2113G>A - 2, 6, 8, 13, 14
G750D c.2249G>A + 8
M797R c.2390T>G + 2
C843Y c.2528G>A - 8
G857A c.2570G>C + 1, 2, 6, 12
a

Amino acid numbering is based on the PMS2 reference sequence NP_000526.1 with +1 corresponding to the translation initiation amino acid.

b

Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the translation initiation codon of the PMS2 GenBank reference sequence (NM_000535.5).

c

MSI=Microsatellite Instability. H=High, L=Low, IHC=Immunohistochemistry. Neg = Negative for staining, Pos = Positive for staining. In case cells are empty, the variant was not tested.