Search Results: 1 unique variant retrieved.



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

  c.1077A>G
p.Ile359Met (Legacy AA No. 341)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251412
Allele Frequency *: 
0.000004

Variant Comments & Reference:

Ile359 is one of several residues involved in the non-covalent interactions between two Ap4 domains in a FXI dimer. Saunders et al 2009

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database