In Depth Variant Analysis:  c.127G>A (p.Ala43Thr)
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c.127G>A
p.Ala43Thr (Legacy AA No. 25)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
9
Allele Number *: 
251460
Allele Frequency *: 
0.000036
Variant Comments & Reference:
Heterodimer trapping. Duga & Salomon 2013Residue Information:
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Substitution Analysis:
Structural Implications:
Ala43 is a buried residue  (surface accessibility value = 0 ).
Ala43 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Ala43 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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