In Depth Variant Analysis:  c.596C>T (p.Ala199Val)
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c.596C>T
p.Ala199Val (Legacy AA No. 181)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Ala199 is located next to the conserved Cys200 residue that forms a disulphide bridge with Cys283 connecting the two ends of the Ap3 domain. The Ala199Val substitution interferes with the disulphide bond leading to a misfolded protein. de Raucourt et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Ala199 is an exposed residue  (surface accessibility value = 4 ).
Ala199 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Ala199 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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