In Depth Variant Analysis:  c.428A>C (p.Asp143Ala)
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c.428A>C
p.Asp143Ala (Legacy AA No. 125)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
A>C
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Jerčić et al 2020Residue Information:
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Substitution Analysis:
Structural Implications:
Asp143 is an exposed residue  (surface accessibility value = 2 ).
Asp143 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Asp143 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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