In Depth Variant Analysis:  c.126C>G (p.Ser42Arg)
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c.126C>G
p.Ser42Arg (Legacy AA No. 24)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
C>G
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Ser42Arg lies at the start of helix A1 within the Ap1 domain. In the crystal structure, this sidechain points towards the interdomain contacts with the Ap2 domain and the replacement with a larger charged residue is predicted to affect the protein structure. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Ser42 is a buried residue  (surface accessibility value = 1 ).
Ser42 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Ser42 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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