In Depth Variant Analysis:  c.141G>C (p.Gln47His)
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c.141G>C
p.Gln47His (Legacy AA No. 29)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
17
Allele Number *: 
251470
Allele Frequency *: 
0.000068
Variant Comments & Reference:
Mutant protein was not secreted by transfected HEK293 cells. Bolton-Maggs et al 2003 (Abstract)Residue Information:
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Substitution Analysis:
Structural Implications:
Gln47 is a buried residue  (surface accessibility value = 0 ).
Gln47 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Gln47 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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