Factor XI Gene (F11)

Variant Database

FXI (2F83) animation with variants
FXI (2F83) animation

  Search Results: 2 unique variants retrieved



Terms with a '*' next to them are explained on the Help Page .

  c.1252G>A
p.Gly418Ser (Legacy AA No. 400)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251466
Allele Frequency *: 
0.000004

Variant Comments & Reference:

Castaman et al 2007 (ISTH Abstract)

Patient Information: Show


Structural Interpretation:

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  c.1253G>T
p.Gly418Val (Legacy AA No. 400)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
11
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251466
Allele Frequency *: 
0.000008

Variant Comments & Reference:

Mutant protein is not expressed in 293 kidney fibroblasts. Northern blot analysis demonstrated that wild type and mutant protein generated similar amounts of mRNA. Co-transfection with wild-type and mutant protein reduces wild-type secretion about 50% - non-secretable mutant protein monomers trap wild-type polypeptides within cells through homodimer formation, resulting in lower FXI levels in plasma. Gly418Val exerts a dominant negative effect which stems from an impaired secretion of heterodimers consisting of a normal and a mutant monomer. Gailani 2001 et al (Abstract B), Kravtsov et al 2004, Colakoglu et al 2018, Peng et al 2020, Zhang et al 2020

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.





Factor XI Variant Database
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