In Depth Variant Analysis:  c.434A>G (p.His145Arg)
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c.434A>G
p.His145Arg (Legacy AA No. 127)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
U
Allele Count *: 
39
Allele Number *: 
282700
Allele Frequency *: 
0.000138
Variant Comments & Reference:
The His145Arg mutation occurs adjacent to the Cys140-Cys146 disulphide pairing in Ap2, responsible for creating the substrate binding site in FXIa. Castaman et al 2007 (ISTH Poster Abstract), Castaman et al 2013, Peng et al 2020Residue Information:
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Substitution Analysis:
Structural Implications:
His145 is a buried residue  (surface accessibility value = 1 ).
His145 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
His145 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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