Factor XI Gene (F11)

Variant Database

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

  Search Results: 1 unique variant retrieved.



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

  c.100G>C
p.Asp34His (Legacy AA No. 16)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251446
Allele Frequency *: 
0.000008

Variant Comments & Reference:

Amount of mutant protein secreted from cells in vitro is reduced. The replacement of Asp 34 in the Ap1 domain of factor XI is a radical substitution, because the wild-type Asp side chain is small and negatively charged at physiologic pH, whereas the His group is bulky and hydrophobic with neutral charge - the alteration of charge and shape and the resultant conformational change of this region of the molecule might interfere with chain folding. Pugh et al 1995

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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