In Depth Variant Analysis:  c.328T>G (p.Cys110Gly)
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c.328T>G
p.Cys110Gly (Legacy AA No. 92)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
T>G
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
The Cys110Gly mutation results in the loss of the C110-C193 disulfide bond and likely impairs the structure of the Ap2 domain. Thus, this mutation could alter the assembly and secretion of the protein. Quelin et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Cys110 is an exposed residue  (surface accessibility value = 2 ).
Cys110 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Cys110 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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