AKUdatabase
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Mutations Mus musculus
This table was constructed based in the publications from Markus Grompe's laboratory Manning et al., 1999 and Manning et al., 1999.
Name
Mutation
Nucleotide change1
Amino Acid change/Predicted Consequence
DelV265
Deletion
c.966DelTCG
Deletion of V265
T267G
Missense
c.970GACョ TGG
Thr267Gly
W268G
Missense
c.974Tョ G
Trp268Gly
K286E
Missense
c.998Aョ G
Lys268Glu
D294N
Missense
c.1052Gョ A
Asp294Asn
T328P
Missense
c.1154Aョ C
Thr328Pro
T328I
Missense
c.1155Cョ T
Thr328Ile
R330G
Missense
c.1160Aョ G
Arg330Gly
E341D
Missense
c.1195Gョ T
Glu341Asp
c.1253Del31bp
Deletion
c.1253Del31bp
Truncation after G360
c.1261-1287 duplication
Duplication
c.1261-1287 duplication
Frameshift after G372
H371D
Missense
c.1283Cョ G
His371Asp
G372S
Missense
c.1286Gョ A
Gly372Ser
H371fs
Frameshift
c.1287DelG
Frameshift after H371
P372fs
Frameshift
c.1292DelG
Frameshift after P372
L386fs
Frameshift
c.1330DelC
Frameshift after L386
A392fs
Frameshift
c.1351DelC
Frameshift after A392
D393fs
Frameshift
c.1351InsT
Frameshift after D393
M396fs
Frameshift
c.1363InsCG
Frameshift after M369
F398fs
Frameshift
c.1367DelAT
Frameshift after F398
S403X
Nonsense
c.1377DelCTTC
Stop at S403
DelL429-S437
Deletion
c.1458Del27bp
Deletion L429-S437
1)Nucleotide 1 is the first base of the published M. musculus cDNA sequence: U58988.