In Depth Variant Analysis:  c.755G>A (p.Arg252Lys)
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c.755G>A
p.Arg252Lys (Legacy AA No. 234)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Replacement of hydrophilic basic Arg withhydrophilic basic Lys occurs in the last nucleotide of exon 7 and likely disrupts normal mRNA splicing. Duncan et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Arg252 is an exposed residue  (surface accessibility value = 3 ).
Arg252 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Arg252 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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