In Depth Variant Analysis:  c.454G>C (p.Ala152Pro)
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c.454G>C
p.Ala152Pro (Legacy AA No. 134)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251280
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Ala152 is a buried residue  (surface accessibility value = 0 ).
Ala152 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Ala152 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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