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 change 1 |
Amino Acid change/Predicted Consequence |
DelV265 |
Deletion |
c.966DelTCG |
Deletion
of V265 |
T267G |
Missense |
c.970GAC® TGG |
Thr267Gly |
W268G |
Missense |
c.974T® G |
Trp268Gly |
K286E |
Missense |
c.998A® G |
Lys268Glu |
D294N |
Missense |
c.1052G® A |
Asp294Asn |
T328P |
Missense |
c.1154A® C |
Thr328Pro |
T328I |
Missense |
c.1155C® T |
Thr328Ile |
R330G |
Missense |
c.1160A® G |
Arg330Gly |
E341D |
Missense |
c.1195G® 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® G |
His371Asp |
G372S |
Missense |
c.1286G® 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.
|