In Depth Variant Analysis:  c.137G>T (p.Cys46Phe)
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c.137G>T
p.Cys46Phe (Legacy AA No. 28)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
251460
Allele Frequency *: 
0.000012
Variant Comments & Reference:
This mutation represents a structurally significant change as it abolishes a Cys46-Cys76 disulphide bridge that is essential for the folding of the first apple domain. Zivelin et al 2002, Hill et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Cys46 is a buried residue  (surface accessibility value = 0 ).
Cys46 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Cys46 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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