In Depth Variant Analysis:  c.296C>A (p.Ser99Tyr)
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c.296C>A
p.Ser99Tyr (Legacy AA No. 81)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
C>A
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251272
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Ser99Tyr is fully buried at the end of β-strand G in the Ap1 domain, thus the replacement with a bulky Tyr residue is expected to disrupt the protein folding. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Ser99 is a buried residue  (surface accessibility value = 0 ).
Ser99 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Ser99 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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