In Depth Variant Analysis:  c.100G>C (p.Asp34His)
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c.100G>C
p.Asp34His (Legacy AA No. 16)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251446
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Amount of mutant protein secreted from cells in vitro is reduced. The replacement of Asp 34 in the Ap1 domain of factor XI is a radical substitution, because the wild-type Asp side chain is small and negatively charged at physiologic pH, whereas the His group is bulky and hydrophobic with neutral charge - the alteration of charge and shape and the resultant conformational change of this region of the molecule might interfere with chain folding. Pugh et al 1995Residue Information:
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Substitution Analysis:
Structural Implications:
Asp34 is an exposed residue  (surface accessibility value = 4 ).
Asp34 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Asp34 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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