Database

Disease	A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene	A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

F2

Gene name: coagulation factor II (thrombin)
OMIM ID: 176930
Chromosome location: 11p11-q12

Mutations

Disease/Phenotype	Thrombophilia due to thrombin defect
Reference transcript	NM_000506.3
DNA Change	c.*97G>A
A.A. Change
Exon/Intron	3' of the stop codon
Mutation Type	substitution
Reference	Danckwardt S, Hartmann K, Katz B, Hentze MW, Levy Y, Eichele R, Deutsch V, Kulozik AE, Ben-Tal O.The prothrombin 20209 C-->T mutation in Jewish-Moroccan Caucasians: molecular analysis of gain-of-function of 3 end processing. J Thromb Haemost. 2006 May;4(5):1078-85.

Polymorphisms

Disease/Phenotype

Ischemic stroke, susceptibility to

Reference transcript

NM_000506.3

DNA Change

c.*97G>A

A.A. Change

Exon/Intron

3' of the stop codon

Variation Type

substitution

Reference SNP

rs1799963

Cases

91 patients

Controls

182 healthy controls

Frequency

Allele/Genotype	Frequency in cases	Frequency in controls	OR (95%CI)	P-value
G	94%	97,3%	1
A	6%	2.7%	2.3(0.58-8.9)
GG	87,9%	94,5%	1
GA	12.1%	5.5%	2.3(0.97-5.7)	0.054
AA	0	0

Comments

No significant association was found between F2-G20210A polymorphism with stroke,

Reference

They-They TP, Battas O, Slassi I, Rafai MA, Katumbay DT, Nadifi S. Prothrombin G20210A and factor V Leiden polymorphisms in stroke.
J Mol Neurosci. 2012 Jan;46(1):210-6.

Disease/Phenotype

Myocardial infarction, susceptibility to