In Depth Variant Analysis:  c.1253G>T (p.Gly418Val)
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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 2020Residue Information:
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Substitution Analysis:
Structural Implications:
Gly418 is a buried residue  (surface accessibility value = 0 ).
Gly418 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Gly418 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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