In Depth Variant Analysis:  c.55G>A ()

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  c.55G>A
(Legacy AA No. 1)

Variant Type:  
Point
Domain:  
Linker
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Zhang et al 2020

Patient Information: Show



Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Glu
acidic
acyclic
large
surface
hydrophilic
negative
Mutated
-
-
-
-
-
-
-


Substitution Analysis:




Structural Implications:


19 is in a region on the surface of the FXI structure that is undefined. Hence the FXI structure and its JMOL applet are not shown below.

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Factor XI Variant Database