The UMD-MSH2 mutations database
Mutation c.1786_1788delAAT



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
14_34333_04C156_04C156-MM-----
19_15229_15229-001_15229------
19_2539_2539-001_2539-001-----
19_8325_8325-001_8325-001-----
25_10522_P10522_1_KPD59-----
37_L02.02_1085_6177-----
37_L02.02_5938_61851-----
37_L02.02_9845_83647-----
4_97127_---_566-----
4_JCS0903_19619_2623-----
8_41852_16091970_08-59100-----
SO_-1265---G00208-----
SO_-1265---G00335-----
SO_-1867---G00625-----
SO_-1867---G01773-----
SO_-1867---G01774-----
SO_-1867---G05557-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeAmsterdam II + (family 1)20/07/127 (Marseille)
---
Functional assayYeast: complete loss of MMR function10/01/12"Drost et al. Human Mutation 2011; doi: 10.1002/humu.22000"
22102614
Functional assayGST interaction assays : normal MSH3-binding, normal MSH6-binding25/06/07"Guerrette Mol Cell Biol 1998;18:6116-23"
9774676
MMR function in tumor cellsMSI / MSH2-MSH6- (patient B, family 1, colon)20/07/127 (Marseille)
---
Ex vivo analysisSplicing reporter minigene pCAS: normal splicing6/02/0719 (INSERM U1079-Rouen)
---
MMR function in tumor cellsMSI / MSH2-MSH6- (patient A, family 1, endometrium)20/07/127 (Marseille)
---


Biological significanceDate Comment
Causal10/01/12---