MLH1 c.1354A>T ;(p.T452S)

Variant ID: 3-37067443-A-T

NM_000249.3(MLH1):c.1354A>T;(p.T452S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It.

International Journal Of Molecular Sciences
Ponomarenko, Mikhail M; Rasskazov, Dmitry D; Chadaeva, Irina I; Sharypova, Ekaterina E; Drachkova, Irina I; Oshchepkov, Dmitry D; Ponomarenko, Petr P; Savinkova, Ludmila L; Oshchepkova, Evgeniya E; Nazarenko, Maria M; Kolchanov, Nikolay N
Publication Date: 2020-02-05

Variant appearance in text: rs34285587
PubMed Link: 32033288
Variant Present in the following documents:
  • Main text
  • ijms-21-01045.pdf
View BVdb publication page



Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human Mutation
Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2013-01

Variant appearance in text: MLH1: Thr452Ser
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Journal Of Biomedical Science
Doss, C George Priya CG; Sethumadhavan, Rao R
Publication Date: 2009-04-24

Variant appearance in text: rs34285587
PubMed Link: 19389263
Variant Present in the following documents:
  • Main text
  • 1423-0127-16-42.pdf
View BVdb publication page