MSH3 414TER

Stable Identifier
R-HSA-5578664
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
DNA mismatch repair protein Msh3, MSH3_HUMAN
Locations in the PathwayBrowser
Summation

A primary endometrial cancer and in an endometrial carcinoma cell line, Risinger et al. (1996) found a somatic mutation in the MSH3 gene. The mutation resulted in a truncated product and consisted of a single nucleotide deletion, loss of an A/T basepair at position 1148. This change generated a premature nonsense codon 58 amino acids downstream and resulted in a protein 723 amino acids shorter than the wildtype gene product. Single A/T deletion Valine 356 to Valine, GTT to GTG 58 aa later at aa 414 new terminator is introduced.

Literature References
PubMed ID Title Journal Year
8782829 Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair

Risinger, JI, Umar, A, Boyd, J, Berchuck, A, Kunkel, TA, Barrett, JC

Nat. Genet. 1996
External Reference Information
External Reference
Gene Names
MSH3, DUC1, DUG
Chain
chain:1-1137
Reference Transcript
Other Identifiers
0000840739
11731032_at
11731033_at
16986748
17126222
1719_at
210947_s_at
2817839
2817840
2817844
2817847
2817848
2817849
2817850
2817851
2817856
2817857
2817858
2817866
2817868
2817870
2817871
2817881
2817882
2817883
2817886
2817887
2817890
2817892
2817895
2817896
2817907
2817908
2817910
2817912
2817913
2817914
36081
3THW
3THX
3THY
3THZ
4437
8106633
A_14_P117964
A_14_P122052
A_14_P123827
A_14_P139372
A_23_P122001
A_24_P203479
AAB06045
AAB47281
AAH11817
AAI30435
AAI30437
AAP13535
AC008434
AC010270
AC022493
AY275681
BAD27111
BC011817
BC130434
BC130436
CCDS34195
D61419
ENSG00000113318
ENSP00000265081
ENST00000265081
EntrezGene:4437
g181841_3p_a_at
GE59286
GO:0000166
GO:0000403
GO:0000404
GO:0000406
GO:0002376
GO:0003674
GO:0003677
GO:0003684
GO:0003697
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0006259
GO:0006281
GO:0006298
GO:0006950
GO:0006974
GO:0008094
GO:0008150
GO:0016020
GO:0016447
GO:0016887
GO:0019899
GO:0030983
GO:0032139
GO:0032142
GO:0032181
GO:0032302
GO:0032991
GO:0034641
GO:0043167
GO:0043226
GO:0043570
GO:0045910
GO:0048856
GO:0051096
GO:0051276
HGNC:7326
HPA036081
ILMN_1719471
IPR000432
IPR007695
IPR007696
IPR007860
IPR016151
IPR017261
IPR027417
IPR036187
IPR036678
J04810
J04810_s_at
MIM:600887
MIM:608089
MIM:617100
MSH3
MSH3-201
NM_002439
NP_002430
PF00488
PF01624
PF05188
PF05192
PH_hs_0003124
SM00533
SM00534
TC05000400.hg
U61981
U61981_at
uc003kgz.5
UPI0000DBEE85
Participant Of
Other forms of this molecule
Modified Residues
Name
L-valine residue at 356
Coordinate
356
PsiMod Name
PsiMod Definition
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
endometrial cancer 1380 primary malignant neoplasm of endometrium, neoplasm of endometrium (disorder), endometrial neoplasm, malignant endometrial neoplasm, endometrial Ca, malignant neoplasm of endometrium, tumor of Endometrium
Cross References
RefSeq
GeneCards
PRO
Orphanet
PDB